Canonical Allele Identifier: CA517924495
Gene: COL4A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.107930767T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108687537T>A , CM000685.2:g.108687537T>A GRCh38
NC_000023.10:g.107930767T>A , CM000685.1:g.107930767T>A GRCh37
NC_000023.9:g.107817423T>A NCBI36
NG_011977.1:g.252614T>A
NG_011977.2:g.252614T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4371T>A MANE Select ENSP00000331902.7:p.Gly1457=
ENST00000361603.7:c.4353T>A ENSP00000354505.2:p.Gly1451=
ENST00000510690.2:n.865T>A
ENST00000328300.10:c.4371T>A ENSP00000331902.6:p.Gly1457=
ENST00000361603.6:c.4353T>A ENSP00000354505.2:p.Gly1451=
ENST00000515658.1:c.167T>A
NM_000495.4:c.4353T>A NP_000486.1:p.Gly1451=
NM_033380.2:c.4371T>A NP_203699.1:p.Gly1457=
XM_005262070.2:c.4362T>A XP_005262127.1:p.Gly1454=
XM_006724616.2:c.4371T>A XP_006724679.1:p.Gly1457=
XM_011530849.1:c.4047T>A XP_011529151.1:p.Gly1349=
XM_011530851.1:c.1944T>A XP_011529153.1:p.Gly648=
XM_011530849.2:c.4386T>A XP_011529151.2:p.Gly1462=
XM_017029259.2:c.4377T>A XP_016884748.1:p.Gly1459=
XM_017029260.1:c.4368T>A XP_016884749.1:p.Gly1456=
XM_017029263.2:c.2706T>A XP_016884752.1:p.Gly902=
NM_000495.5:c.4353T>A NP_000486.1:p.Gly1451=
NM_033380.3:c.4371T>A MANE Select NP_203699.1:p.Gly1457=