Canonical Allele Identifier: CA259127
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886423
MyVariant Identifiers: chrX:g.107938272T>C (hg19) chrX:g.108695042T>C (hg38)
PubMed: PMID:16517570
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108695042T>C , CM000685.2:g.108695042T>C GRCh38
NC_000023.10:g.107938272T>C , CM000685.1:g.107938272T>C GRCh37
NC_000023.9:g.107824928T>C NCBI36
NG_011977.1:g.260119T>C
NG_011977.2:g.260119T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4821+121T>C MANE Select ENSP00000331902.7:n.4821+121T>C
ENST00000361603.7:c.4803+121T>C ENSP00000354505.2:n.4803+121T>C
ENST00000510690.2:n.1315+121T>C
ENST00000644079.1:n.1428T>C
ENST00000328300.10:c.4821+121T>C ENSP00000331902.6:n.4821+121T>C
ENST00000361603.6:c.4803+121T>C ENSP00000354505.2:n.4803+121T>C
ENST00000504541.1:c.219+121T>C ENSP00000424845.1:n.219+121T>C
ENST00000515658.1:c.325-1255T>C
NM_000495.4:c.4803+121T>C NP_000486.1:n.4803+121T>C
NM_033380.2:c.4821+121T>C NP_203699.1:n.4821+121T>C
XM_005262070.2:c.4812+121T>C XP_005262127.1:n.4812+121T>C
XM_006724616.2:c.4821+121T>C XP_006724679.1:n.4821+121T>C
XM_011530849.1:c.4497+121T>C XP_011529151.1:n.4497+121T>C
XM_011530851.1:c.2394+121T>C XP_011529153.1:n.2394+121T>C
XM_011530849.2:c.4836+121T>C XP_011529151.2:n.4836+121T>C
XM_017029259.2:c.4827+121T>C XP_016884748.1:n.4827+121T>C
XM_017029260.1:c.4818+121T>C XP_016884749.1:n.4818+121T>C
XM_017029263.2:c.3156+121T>C XP_016884752.1:n.3156+121T>C
NM_000495.5:c.4803+121T>C NP_000486.1:n.4803+121T>C
NM_033380.3:c.4821+121T>C MANE Select NP_203699.1:n.4821+121T>C
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