Canonical Allele Identifier: CA413854588

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107930867G>T (hg19) ; chrX:g.108687637G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687637G>T , CM000685.2:g.108687637G>T	GRCh38
NC_000023.10:g.107930867G>T , CM000685.1:g.107930867G>T	GRCh37
NC_000023.9:g.107817523G>T	NCBI36
NG_011977.1:g.252714G>T
NG_011977.2:g.252714G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4471G>T MANE Select	ENSP00000331902.7:p.Glu1491Ter
ENST00000361603.7:c.4453G>T	ENSP00000354505.2:p.Glu1485Ter
ENST00000510690.2:n.965G>T
ENST00000328300.10:c.4471G>T	ENSP00000331902.6:p.Glu1491Ter
ENST00000361603.6:c.4453G>T	ENSP00000354505.2:p.Glu1485Ter
ENST00000515658.1:c.267G>T
NM_000495.4:c.4453G>T	NP_000486.1:p.Glu1485Ter
NM_033380.2:c.4471G>T	NP_203699.1:p.Glu1491Ter
XM_005262070.2:c.4462G>T	XP_005262127.1:p.Glu1488Ter
XM_006724616.2:c.4471G>T	XP_006724679.1:p.Glu1491Ter
XM_011530849.1:c.4147G>T	XP_011529151.1:p.Glu1383Ter
XM_011530851.1:c.2044G>T	XP_011529153.1:p.Glu682Ter
XM_011530849.2:c.4486G>T	XP_011529151.2:p.Glu1496Ter
XM_017029259.2:c.4477G>T	XP_016884748.1:p.Glu1493Ter
XM_017029260.1:c.4468G>T	XP_016884749.1:p.Glu1490Ter
XM_017029263.2:c.2806G>T	XP_016884752.1:p.Glu936Ter
NM_000495.5:c.4453G>T	NP_000486.1:p.Glu1485Ter
NM_033380.3:c.4471G>T MANE Select	NP_203699.1:p.Glu1491Ter