Canonical Allele Identifier: CA413854017

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107930747G>A (hg19) ; chrX:g.108687517G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687517G>A , CM000685.2:g.108687517G>A	GRCh38
NC_000023.10:g.107930747G>A , CM000685.1:g.107930747G>A	GRCh37
NC_000023.9:g.107817403G>A	NCBI36
NG_011977.1:g.252594G>A
NG_011977.2:g.252594G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4351G>A MANE Select	ENSP00000331902.7:p.Gly1451Arg
ENST00000361603.7:c.4333G>A	ENSP00000354505.2:p.Gly1445Arg
ENST00000510690.2:n.845G>A
ENST00000328300.10:c.4351G>A	ENSP00000331902.6:p.Gly1451Arg
ENST00000361603.6:c.4333G>A	ENSP00000354505.2:p.Gly1445Arg
ENST00000515658.1:c.147G>A
NM_000495.4:c.4333G>A	NP_000486.1:p.Gly1445Arg
NM_033380.2:c.4351G>A	NP_203699.1:p.Gly1451Arg
XM_005262070.2:c.4342G>A	XP_005262127.1:p.Gly1448Arg
XM_006724616.2:c.4351G>A	XP_006724679.1:p.Gly1451Arg
XM_011530849.1:c.4027G>A	XP_011529151.1:p.Gly1343Arg
XM_011530851.1:c.1924G>A	XP_011529153.1:p.Gly642Arg
XM_011530849.2:c.4366G>A	XP_011529151.2:p.Gly1456Arg
XM_017029259.2:c.4357G>A	XP_016884748.1:p.Gly1453Arg
XM_017029260.1:c.4348G>A	XP_016884749.1:p.Gly1450Arg
XM_017029263.2:c.2686G>A	XP_016884752.1:p.Gly896Arg
NM_000495.5:c.4333G>A	NP_000486.1:p.Gly1445Arg
NM_033380.3:c.4351G>A MANE Select	NP_203699.1:p.Gly1451Arg