Canonical Allele Identifier: CA10489332

Gene: COL4A5

Linked Data

• dbSNP Id: rs771323164
• ExAC: X:107929336 A / T
• gnomAD v2: X-107929336-A-T
• gnomAD v3: X-108686106-A-T
• gnomAD v4: X-108686106-A-T
• MyVariant Identifiers: chrX:g.107929336A>T (hg19) ; chrX:g.108686106A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108686106A>T , CM000685.2:g.108686106A>T	GRCh38
NC_000023.10:g.107929336A>T , CM000685.1:g.107929336A>T	GRCh37
NC_000023.9:g.107815992A>T	NCBI36
NG_011977.1:g.251183A>T
NG_011977.2:g.251183A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4292A>T MANE Select	ENSP00000331902.7:p.Asp1431Val
ENST00000361603.7:c.4274A>T	ENSP00000354505.2:p.Asp1425Val
ENST00000510690.2:n.786A>T
ENST00000328300.10:c.4292A>T	ENSP00000331902.6:p.Asp1431Val
ENST00000361603.6:c.4274A>T	ENSP00000354505.2:p.Asp1425Val
ENST00000489230.1:n.695A>T
ENST00000515658.1:c.88A>T
NM_000495.4:c.4274A>T	NP_000486.1:p.Asp1425Val
NM_033380.2:c.4292A>T	NP_203699.1:p.Asp1431Val
XM_005262070.2:c.4283A>T	XP_005262127.1:p.Asp1428Val
XM_006724616.2:c.4292A>T	XP_006724679.1:p.Asp1431Val
XM_011530849.1:c.3968A>T	XP_011529151.1:p.Asp1323Val
XM_011530851.1:c.1865A>T	XP_011529153.1:p.Asp622Val
XM_011530849.2:c.4307A>T	XP_011529151.2:p.Asp1436Val
XM_017029259.2:c.4298A>T	XP_016884748.1:p.Asp1433Val
XM_017029260.1:c.4289A>T	XP_016884749.1:p.Asp1430Val
XM_017029263.2:c.2627A>T	XP_016884752.1:p.Asp876Val
NM_000495.5:c.4274A>T	NP_000486.1:p.Asp1425Val
NM_033380.3:c.4292A>T MANE Select	NP_203699.1:p.Asp1431Val