Canonical Allele Identifier: CA1181422640

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047061C= , CM000663.2:g.94047061C=	GRCh38
NC_000001.10:g.94512617C= , CM000663.1:g.94512617C=	GRCh37
NC_000001.9:g.94285205C=	NCBI36
NG_009073.1:g.79089G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2776G= MANE Select	ENSP00000359245.3:p.Val926=
ENST00000649773.1:c.2554G=	ENSP00000496882.1:p.Val852=
ENST00000370225.3:c.2776G=	ENSP00000359245.3:p.Val926=
ENST00000536513.5:c.-64-6972G=	ENSP00000439707.2:n.-64-6972G=
NM_000350.2:c.2776G=	NP_000341.2:p.Val926=
NM_000350.3:c.2776G= MANE Select	NP_000341.2:p.Val926=