Canonical Allele Identifier: CA413851969

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107925017G>A (hg19) ; chrX:g.108681787G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681787G>A , CM000685.2:g.108681787G>A	GRCh38
NC_000023.10:g.107925017G>A , CM000685.1:g.107925017G>A	GRCh37
NC_000023.9:g.107811673G>A	NCBI36
NG_011977.1:g.246864G>A
NG_011977.2:g.246864G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4115G>A MANE Select	ENSP00000331902.7:p.Gly1372Glu
ENST00000361603.7:c.4097G>A	ENSP00000354505.2:p.Gly1366Glu
ENST00000510690.2:n.609G>A
ENST00000328300.10:c.4115G>A	ENSP00000331902.6:p.Gly1372Glu
ENST00000361603.6:c.4097G>A	ENSP00000354505.2:p.Gly1366Glu
ENST00000489230.1:n.518G>A
NM_000495.4:c.4097G>A	NP_000486.1:p.Gly1366Glu
NM_033380.2:c.4115G>A	NP_203699.1:p.Gly1372Glu
XM_005262070.2:c.4106G>A	XP_005262127.1:p.Gly1369Glu
XM_006724616.2:c.4115G>A	XP_006724679.1:p.Gly1372Glu
XM_011530849.1:c.3791G>A	XP_011529151.1:p.Gly1264Glu
XM_011530851.1:c.1688G>A	XP_011529153.1:p.Gly563Glu
XM_011530849.2:c.4130G>A	XP_011529151.2:p.Gly1377Glu
XM_017029259.2:c.4121G>A	XP_016884748.1:p.Gly1374Glu
XM_017029260.1:c.4112G>A	XP_016884749.1:p.Gly1371Glu
XM_017029263.2:c.2450G>A	XP_016884752.1:p.Gly817Glu
NM_000495.5:c.4097G>A	NP_000486.1:p.Gly1366Glu
NM_033380.3:c.4115G>A MANE Select	NP_203699.1:p.Gly1372Glu