Canonical Allele Identifier: CA413854686

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107930889T>A (hg19) ; chrX:g.108687659T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687659T>A , CM000685.2:g.108687659T>A	GRCh38
NC_000023.10:g.107930889T>A , CM000685.1:g.107930889T>A	GRCh37
NC_000023.9:g.107817545T>A	NCBI36
NG_011977.1:g.252736T>A
NG_011977.2:g.252736T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4493T>A MANE Select	ENSP00000331902.7:p.Val1498Glu
ENST00000361603.7:c.4475T>A	ENSP00000354505.2:p.Val1492Glu
ENST00000510690.2:n.987T>A
ENST00000328300.10:c.4493T>A	ENSP00000331902.6:p.Val1498Glu
ENST00000361603.6:c.4475T>A	ENSP00000354505.2:p.Val1492Glu
ENST00000515658.1:c.289T>A
NM_000495.4:c.4475T>A	NP_000486.1:p.Val1492Glu
NM_033380.2:c.4493T>A	NP_203699.1:p.Val1498Glu
XM_005262070.2:c.4484T>A	XP_005262127.1:p.Val1495Glu
XM_006724616.2:c.4493T>A	XP_006724679.1:p.Val1498Glu
XM_011530849.1:c.4169T>A	XP_011529151.1:p.Val1390Glu
XM_011530851.1:c.2066T>A	XP_011529153.1:p.Val689Glu
XM_011530849.2:c.4508T>A	XP_011529151.2:p.Val1503Glu
XM_017029259.2:c.4499T>A	XP_016884748.1:p.Val1500Glu
XM_017029260.1:c.4490T>A	XP_016884749.1:p.Val1497Glu
XM_017029263.2:c.2828T>A	XP_016884752.1:p.Val943Glu
NM_000495.5:c.4475T>A	NP_000486.1:p.Val1492Glu
NM_033380.3:c.4493T>A MANE Select	NP_203699.1:p.Val1498Glu