Canonical Allele Identifier: CA517924633

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107930863C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687633C>A , CM000685.2:g.108687633C>A	GRCh38
NC_000023.10:g.107930863C>A , CM000685.1:g.107930863C>A	GRCh37
NC_000023.9:g.107817519C>A	NCBI36
NG_011977.1:g.252710C>A
NG_011977.2:g.252710C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4467C>A MANE Select	ENSP00000331902.7:p.Val1489=
ENST00000361603.7:c.4449C>A	ENSP00000354505.2:p.Val1483=
ENST00000510690.2:n.961C>A
ENST00000328300.10:c.4467C>A	ENSP00000331902.6:p.Val1489=
ENST00000361603.6:c.4449C>A	ENSP00000354505.2:p.Val1483=
ENST00000515658.1:c.263C>A
NM_000495.4:c.4449C>A	NP_000486.1:p.Val1483=
NM_033380.2:c.4467C>A	NP_203699.1:p.Val1489=
XM_005262070.2:c.4458C>A	XP_005262127.1:p.Val1486=
XM_006724616.2:c.4467C>A	XP_006724679.1:p.Val1489=
XM_011530849.1:c.4143C>A	XP_011529151.1:p.Val1381=
XM_011530851.1:c.2040C>A	XP_011529153.1:p.Val680=
XM_011530849.2:c.4482C>A	XP_011529151.2:p.Val1494=
XM_017029259.2:c.4473C>A	XP_016884748.1:p.Val1491=
XM_017029260.1:c.4464C>A	XP_016884749.1:p.Val1488=
XM_017029263.2:c.2802C>A	XP_016884752.1:p.Val934=
NM_000495.5:c.4449C>A	NP_000486.1:p.Val1483=
NM_033380.3:c.4467C>A MANE Select	NP_203699.1:p.Val1489=