Canonical Allele Identifier: CA413853751

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107929335G>A (hg19) ; chrX:g.108686105G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108686105G>A , CM000685.2:g.108686105G>A	GRCh38
NC_000023.10:g.107929335G>A , CM000685.1:g.107929335G>A	GRCh37
NC_000023.9:g.107815991G>A	NCBI36
NG_011977.1:g.251182G>A
NG_011977.2:g.251182G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4291G>A MANE Select	ENSP00000331902.7:p.Asp1431Asn
ENST00000361603.7:c.4273G>A	ENSP00000354505.2:p.Asp1425Asn
ENST00000510690.2:n.785G>A
ENST00000328300.10:c.4291G>A	ENSP00000331902.6:p.Asp1431Asn
ENST00000361603.6:c.4273G>A	ENSP00000354505.2:p.Asp1425Asn
ENST00000489230.1:n.694G>A
ENST00000515658.1:c.87G>A
NM_000495.4:c.4273G>A	NP_000486.1:p.Asp1425Asn
NM_033380.2:c.4291G>A	NP_203699.1:p.Asp1431Asn
XM_005262070.2:c.4282G>A	XP_005262127.1:p.Asp1428Asn
XM_006724616.2:c.4291G>A	XP_006724679.1:p.Asp1431Asn
XM_011530849.1:c.3967G>A	XP_011529151.1:p.Asp1323Asn
XM_011530851.1:c.1864G>A	XP_011529153.1:p.Asp622Asn
XM_011530849.2:c.4306G>A	XP_011529151.2:p.Asp1436Asn
XM_017029259.2:c.4297G>A	XP_016884748.1:p.Asp1433Asn
XM_017029260.1:c.4288G>A	XP_016884749.1:p.Asp1430Asn
XM_017029263.2:c.2626G>A	XP_016884752.1:p.Asp876Asn
NM_000495.5:c.4273G>A	NP_000486.1:p.Asp1425Asn
NM_033380.3:c.4291G>A MANE Select	NP_203699.1:p.Asp1431Asn