Canonical Allele Identifier: CA259050
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886283
MyVariant Identifiers: chrX:g.107930877C>T (hg19) chrX:g.108687647C>T (hg38)
PubMed: PMID:8940267
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108687647C>T , CM000685.2:g.108687647C>T GRCh38
NC_000023.10:g.107930877C>T , CM000685.1:g.107930877C>T GRCh37
NC_000023.9:g.107817533C>T NCBI36
NG_011977.1:g.252724C>T
NG_011977.2:g.252724C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4481C>T MANE Select ENSP00000331902.7:p.Ser1494Phe
ENST00000361603.7:c.4463C>T ENSP00000354505.2:p.Ser1488Phe
ENST00000510690.2:n.975C>T
ENST00000328300.10:c.4481C>T ENSP00000331902.6:p.Ser1494Phe
ENST00000361603.6:c.4463C>T ENSP00000354505.2:p.Ser1488Phe
ENST00000515658.1:c.277C>T
NM_000495.4:c.4463C>T NP_000486.1:p.Ser1488Phe
NM_033380.2:c.4481C>T NP_203699.1:p.Ser1494Phe
XM_005262070.2:c.4472C>T XP_005262127.1:p.Ser1491Phe
XM_006724616.2:c.4481C>T XP_006724679.1:p.Ser1494Phe
XM_011530849.1:c.4157C>T XP_011529151.1:p.Ser1386Phe
XM_011530851.1:c.2054C>T XP_011529153.1:p.Ser685Phe
XM_011530849.2:c.4496C>T XP_011529151.2:p.Ser1499Phe
XM_017029259.2:c.4487C>T XP_016884748.1:p.Ser1496Phe
XM_017029260.1:c.4478C>T XP_016884749.1:p.Ser1493Phe
XM_017029263.2:c.2816C>T XP_016884752.1:p.Ser939Phe
NM_000495.5:c.4463C>T NP_000486.1:p.Ser1488Phe
NM_033380.3:c.4481C>T MANE Select NP_203699.1:p.Ser1494Phe
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