Canonical Allele Identifier: CA517924523
Gene: COL4A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.107930776A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108687546A>T , CM000685.2:g.108687546A>T GRCh38
NC_000023.10:g.107930776A>T , CM000685.1:g.107930776A>T GRCh37
NC_000023.9:g.107817432A>T NCBI36
NG_011977.1:g.252623A>T
NG_011977.2:g.252623A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4380A>T MANE Select ENSP00000331902.7:p.Gly1460=
ENST00000361603.7:c.4362A>T ENSP00000354505.2:p.Gly1454=
ENST00000510690.2:n.874A>T
ENST00000328300.10:c.4380A>T ENSP00000331902.6:p.Gly1460=
ENST00000361603.6:c.4362A>T ENSP00000354505.2:p.Gly1454=
ENST00000515658.1:c.176A>T
NM_000495.4:c.4362A>T NP_000486.1:p.Gly1454=
NM_033380.2:c.4380A>T NP_203699.1:p.Gly1460=
XM_005262070.2:c.4371A>T XP_005262127.1:p.Gly1457=
XM_006724616.2:c.4380A>T XP_006724679.1:p.Gly1460=
XM_011530849.1:c.4056A>T XP_011529151.1:p.Gly1352=
XM_011530851.1:c.1953A>T XP_011529153.1:p.Gly651=
XM_011530849.2:c.4395A>T XP_011529151.2:p.Gly1465=
XM_017029259.2:c.4386A>T XP_016884748.1:p.Gly1462=
XM_017029260.1:c.4377A>T XP_016884749.1:p.Gly1459=
XM_017029263.2:c.2715A>T XP_016884752.1:p.Gly905=
NM_000495.5:c.4362A>T NP_000486.1:p.Gly1454=
NM_033380.3:c.4380A>T MANE Select NP_203699.1:p.Gly1460=