Canonical Allele Identifier: CA517925108
Gene: COL4A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.107936009T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108692779T>C , CM000685.2:g.108692779T>C GRCh38
NC_000023.10:g.107936009T>C , CM000685.1:g.107936009T>C GRCh37
NC_000023.9:g.107822665T>C NCBI36
NG_011977.1:g.257856T>C
NG_011977.2:g.257856T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4560T>C MANE Select ENSP00000331902.7:p.Ser1520=
ENST00000361603.7:c.4542T>C ENSP00000354505.2:p.Ser1514=
ENST00000510690.2:n.1054T>C
ENST00000328300.10:c.4560T>C ENSP00000331902.6:p.Ser1520=
ENST00000361603.6:c.4542T>C ENSP00000354505.2:p.Ser1514=
ENST00000515658.1:c.325-3518T>C
NM_000495.4:c.4542T>C NP_000486.1:p.Ser1514=
NM_033380.2:c.4560T>C NP_203699.1:p.Ser1520=
XM_005262070.2:c.4551T>C XP_005262127.1:p.Ser1517=
XM_006724616.2:c.4560T>C XP_006724679.1:p.Ser1520=
XM_011530849.1:c.4236T>C XP_011529151.1:p.Ser1412=
XM_011530851.1:c.2133T>C XP_011529153.1:p.Ser711=
XM_011530849.2:c.4575T>C XP_011529151.2:p.Ser1525=
XM_017029259.2:c.4566T>C XP_016884748.1:p.Ser1522=
XM_017029260.1:c.4557T>C XP_016884749.1:p.Ser1519=
XM_017029263.2:c.2895T>C XP_016884752.1:p.Ser965=
NM_000495.5:c.4542T>C NP_000486.1:p.Ser1514=
NM_033380.3:c.4560T>C MANE Select NP_203699.1:p.Ser1520=