Canonical Allele Identifier: CA1140726163

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030494A= , CM000663.2:g.94030494A=	GRCh38
NC_000001.10:g.94496050A= , CM000663.1:g.94496050A=	GRCh37
NC_000001.9:g.94268638A=	NCBI36
NG_009073.1:g.95656T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4286T= MANE Select	ENSP00000359245.3:p.Val1429=
ENST00000370225.3:c.4286T=	ENSP00000359245.3:p.Val1429=
ENST00000536513.5:c.662T=	ENSP00000439707.2:p.Val221=
NM_000350.2:c.4286T=	NP_000341.2:p.Val1429=
NM_000350.3:c.4286T= MANE Select	NP_000341.2:p.Val1429=