Canonical Allele Identifier: CA1917974263
Gene: COL13A1 HGNC NCBI

Linked Data

dbSNP Id: rs7077164
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69823442C>A , CM000672.2:g.69823442C>A GRCh38
NC_000010.10:g.71583198C>A , CM000672.1:g.71583198C>A GRCh37
NC_000010.9:g.71253204C>A NCBI36
NG_046344.1:g.26555C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000398969.8:c.364+1004C>A ENSP00000381941.5:n.364+1004C>A
ENST00000673628.2:c.364+1004C>A ENSP00000501050.2:n.364+1004C>A
ENST00000673641.2:c.364+1004C>A ENSP00000501125.2:n.364+1004C>A
ENST00000673802.2:c.364+1004C>A ENSP00000501147.2:n.364+1004C>A
ENST00000673914.2:c.364+1004C>A ENSP00000501202.2:n.364+1004C>A
ENST00000673957.2:c.364+1004C>A ENSP00000500966.2:n.364+1004C>A
ENST00000674008.2:c.364+1004C>A ENSP00000501091.2:n.364+1004C>A
ENST00000674040.2:c.364+1004C>A ENSP00000501131.2:n.364+1004C>A
ENST00000682679.1:c.364+1004C>A ENSP00000507571.1:n.364+1004C>A
ENST00000357811.8:c.364+1004C>A ENSP00000350463.4:n.364+1004C>A
ENST00000398978.8:c.364+1004C>A ENSP00000381949.3:n.364+1004C>A
ENST00000645393.2:c.364+1004C>A MANE Select ENSP00000496051.1:n.364+1004C>A
ENST00000673628.1:c.255+1004C>A
ENST00000673641.1:c.180+1004C>A
ENST00000673802.1:c.180+1004C>A
ENST00000673830.1:n.878+1004C>A
ENST00000673842.1:c.364+1004C>A ENSP00000501058.1:n.364+1004C>A
ENST00000673914.1:c.281+1004C>A
ENST00000673927.1:n.70+1004C>A
ENST00000673957.1:c.153+1004C>A
ENST00000674008.1:c.327+1004C>A
ENST00000674040.1:c.281+1004C>A
ENST00000674121.1:c.364+1004C>A ENSP00000501084.1:n.364+1004C>A
ENST00000354547.7:c.364+1004C>A ENSP00000346553.3:n.364+1004C>A
ENST00000357811.7:c.364+1004C>A ENSP00000350463.3:n.364+1004C>A
ENST00000398969.7:c.364+1004C>A ENSP00000381941.4:n.364+1004C>A
ENST00000398978.7:c.364+1004C>A ENSP00000381949.3:n.364+1004C>A
ENST00000479733.5:c.364+1004C>A ENSP00000430089.1:n.364+1004C>A
ENST00000517713.5:c.364+1004C>A ENSP00000430061.1:n.364+1004C>A
ENST00000520133.5:c.364+1004C>A ENSP00000430173.1:n.364+1004C>A
ENST00000520267.5:c.364+1004C>A ENSP00000428057.1:n.364+1004C>A
ENST00000522165.5:c.364+1004C>A ENSP00000428342.1:n.364+1004C>A
NM_001130103.1:c.364+1004C>A NP_001123575.1:n.364+1004C>A
NM_080798.3:c.364+1004C>A NP_542988.3:n.364+1004C>A
NM_080800.3:c.364+1004C>A NP_542990.3:n.364+1004C>A
NM_080801.3:c.364+1004C>A NP_542991.3:n.364+1004C>A
NM_080802.3:c.364+1004C>A NP_542992.3:n.364+1004C>A
NM_080805.3:c.364+1004C>A NP_542995.3:n.364+1004C>A
XM_011539292.1:c.364+1004C>A XP_011537594.1:n.364+1004C>A
XM_011539293.1:c.364+1004C>A XP_011537595.1:n.364+1004C>A
XM_011539294.1:c.364+1004C>A XP_011537596.1:n.364+1004C>A
XM_011539295.1:c.364+1004C>A XP_011537597.1:n.364+1004C>A
XM_011539296.1:c.364+1004C>A XP_011537598.1:n.364+1004C>A
NM_001320951.1:c.364+1004C>A NP_001307880.1:n.364+1004C>A
XM_011539292.3:c.364+1004C>A XP_011537594.1:n.364+1004C>A
XM_011539293.3:c.364+1004C>A XP_011537595.1:n.364+1004C>A
XM_011539294.3:c.364+1004C>A XP_011537596.1:n.364+1004C>A
XM_011539295.3:c.364+1004C>A XP_011537597.1:n.364+1004C>A
XM_017015676.2:c.364+1004C>A XP_016871165.1:n.364+1004C>A
XM_017015677.2:c.364+1004C>A XP_016871166.1:n.364+1004C>A
XM_017015679.2:c.364+1004C>A XP_016871168.1:n.364+1004C>A
XM_017015680.2:c.364+1004C>A XP_016871169.1:n.364+1004C>A
XM_017015681.2:c.364+1004C>A XP_016871170.1:n.364+1004C>A
XM_017015682.2:c.364+1004C>A XP_016871171.1:n.364+1004C>A
XM_017015683.2:c.364+1004C>A XP_016871172.1:n.364+1004C>A
XM_017015684.2:c.364+1004C>A XP_016871173.1:n.364+1004C>A
XM_017015685.2:c.364+1004C>A XP_016871174.1:n.364+1004C>A
XM_017015686.2:c.364+1004C>A XP_016871175.1:n.364+1004C>A
XM_017015687.2:c.364+1004C>A XP_016871176.1:n.364+1004C>A
XM_017015688.2:c.364+1004C>A XP_016871177.1:n.364+1004C>A
XM_017015689.2:c.364+1004C>A XP_016871178.1:n.364+1004C>A
XM_017015690.2:c.364+1004C>A XP_016871179.1:n.364+1004C>A
XM_017015691.2:c.364+1004C>A XP_016871180.1:n.364+1004C>A
XM_017015692.2:c.364+1004C>A XP_016871181.1:n.364+1004C>A
XM_017015693.2:c.364+1004C>A XP_016871182.1:n.364+1004C>A
XM_017015694.2:c.364+1004C>A XP_016871183.1:n.364+1004C>A
XM_017015695.2:c.364+1004C>A XP_016871184.1:n.364+1004C>A
XM_017015697.2:c.-290+1004C>A XP_016871186.1:n.-290+1004C>A
XM_024447815.1:c.364+1004C>A XP_024303583.1:n.364+1004C>A
XM_024447816.1:c.364+1004C>A XP_024303584.1:n.364+1004C>A
XM_024447817.1:c.364+1004C>A XP_024303585.1:n.364+1004C>A
XM_024447818.1:c.364+1004C>A XP_024303586.1:n.364+1004C>A
XR_001747024.2:n.953+1004C>A
NM_001130103.2:c.364+1004C>A NP_001123575.1:n.364+1004C>A
NM_001320951.2:c.364+1004C>A NP_001307880.1:n.364+1004C>A
NM_001368882.1:c.364+1004C>A MANE Select NP_001355811.1:n.364+1004C>A
NM_001368883.1:c.364+1004C>A NP_001355812.1:n.364+1004C>A
NM_001368884.1:c.364+1004C>A NP_001355813.1:n.364+1004C>A
NM_001368885.1:c.364+1004C>A NP_001355814.1:n.364+1004C>A
NM_001368886.1:c.-290+1004C>A NP_001355815.1:n.-290+1004C>A
NM_001368895.1:c.364+1004C>A NP_001355824.1:n.364+1004C>A
NM_001368896.1:c.364+1004C>A NP_001355825.1:n.364+1004C>A
NM_001368897.1:c.364+1004C>A NP_001355826.1:n.364+1004C>A
NM_001368898.1:c.364+1004C>A NP_001355827.1:n.364+1004C>A
NM_080798.4:c.364+1004C>A NP_542988.3:n.364+1004C>A
NM_080800.4:c.364+1004C>A NP_542990.3:n.364+1004C>A
NM_080801.4:c.364+1004C>A NP_542991.3:n.364+1004C>A
NM_080802.4:c.364+1004C>A NP_542992.3:n.364+1004C>A
NM_080805.4:c.364+1004C>A NP_542995.3:n.364+1004C>A
Search 100 bp 5'
Search 100 bp 3'