Canonical Allele Identifier: CA259109
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886291
MyVariant Identifiers: chrX:g.107938114G>T (hg19) chrX:g.108694884G>T (hg38)
PubMed: PMID:16941480
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108694884G>T , CM000685.2:g.108694884G>T GRCh38
NC_000023.10:g.107938114G>T , CM000685.1:g.107938114G>T GRCh37
NC_000023.9:g.107824770G>T NCBI36
NG_011977.1:g.259961G>T
NG_011977.2:g.259961G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4784G>T MANE Select ENSP00000331902.7:p.Gly1595Val
ENST00000361603.7:c.4766G>T ENSP00000354505.2:p.Gly1589Val
ENST00000510690.2:n.1278G>T
ENST00000644079.1:n.1270G>T
ENST00000328300.10:c.4784G>T ENSP00000331902.6:p.Gly1595Val
ENST00000361603.6:c.4766G>T ENSP00000354505.2:p.Gly1589Val
ENST00000504541.1:c.182G>T ENSP00000424845.1:p.Gly61Val
ENST00000515658.1:c.325-1413G>T
NM_000495.4:c.4766G>T NP_000486.1:p.Gly1589Val
NM_033380.2:c.4784G>T NP_203699.1:p.Gly1595Val
XM_005262070.2:c.4775G>T XP_005262127.1:p.Gly1592Val
XM_006724616.2:c.4784G>T XP_006724679.1:p.Gly1595Val
XM_011530849.1:c.4460G>T XP_011529151.1:p.Gly1487Val
XM_011530851.1:c.2357G>T XP_011529153.1:p.Gly786Val
XM_011530849.2:c.4799G>T XP_011529151.2:p.Gly1600Val
XM_017029259.2:c.4790G>T XP_016884748.1:p.Gly1597Val
XM_017029260.1:c.4781G>T XP_016884749.1:p.Gly1594Val
XM_017029263.2:c.3119G>T XP_016884752.1:p.Gly1040Val
NM_000495.5:c.4766G>T NP_000486.1:p.Gly1589Val
NM_033380.3:c.4784G>T MANE Select NP_203699.1:p.Gly1595Val
Search 100 bp 5'
Search 100 bp 3'