Canonical Allele Identifier: CA1148247380

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047005T= , CM000663.2:g.94047005T=	GRCh38
NC_000001.10:g.94512561T= , CM000663.1:g.94512561T=	GRCh37
NC_000001.9:g.94285149T=	NCBI36
NG_009073.1:g.79145A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2832A= MANE Select	ENSP00000359245.3:p.Pro944=
ENST00000649773.1:c.2610A=	ENSP00000496882.1:p.Pro870=
ENST00000370225.3:c.2832A=	ENSP00000359245.3:p.Pro944=
ENST00000536513.5:c.-64-6916A=	ENSP00000439707.2:n.-64-6916A=
NM_000350.2:c.2832A=	NP_000341.2:p.Pro944=
NM_000350.3:c.2832A= MANE Select	NP_000341.2:p.Pro944=