Canonical Allele Identifier: CA413852001

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107925023G>A (hg19) ; chrX:g.108681793G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681793G>A , CM000685.2:g.108681793G>A	GRCh38
NC_000023.10:g.107925023G>A , CM000685.1:g.107925023G>A	GRCh37
NC_000023.9:g.107811679G>A	NCBI36
NG_011977.1:g.246870G>A
NG_011977.2:g.246870G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4121G>A MANE Select	ENSP00000331902.7:p.Ser1374Asn
ENST00000361603.7:c.4103G>A	ENSP00000354505.2:p.Ser1368Asn
ENST00000510690.2:n.615G>A
ENST00000328300.10:c.4121G>A	ENSP00000331902.6:p.Ser1374Asn
ENST00000361603.6:c.4103G>A	ENSP00000354505.2:p.Ser1368Asn
ENST00000489230.1:n.524G>A
NM_000495.4:c.4103G>A	NP_000486.1:p.Ser1368Asn
NM_033380.2:c.4121G>A	NP_203699.1:p.Ser1374Asn
XM_005262070.2:c.4112G>A	XP_005262127.1:p.Ser1371Asn
XM_006724616.2:c.4121G>A	XP_006724679.1:p.Ser1374Asn
XM_011530849.1:c.3797G>A	XP_011529151.1:p.Ser1266Asn
XM_011530851.1:c.1694G>A	XP_011529153.1:p.Ser565Asn
XM_011530849.2:c.4136G>A	XP_011529151.2:p.Ser1379Asn
XM_017029259.2:c.4127G>A	XP_016884748.1:p.Ser1376Asn
XM_017029260.1:c.4118G>A	XP_016884749.1:p.Ser1373Asn
XM_017029263.2:c.2456G>A	XP_016884752.1:p.Ser819Asn
NM_000495.5:c.4103G>A	NP_000486.1:p.Ser1368Asn
NM_033380.3:c.4121G>A MANE Select	NP_203699.1:p.Ser1374Asn