Canonical Allele Identifier: CA1181409088

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021939A= , CM000663.2:g.94021939A=	GRCh38
NC_000001.10:g.94487495A= , CM000663.1:g.94487495A=	GRCh37
NC_000001.9:g.94260083A=	NCBI36
NG_009073.1:g.104211T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.4680T= MANE Select	ENSP00000359245.3:p.Ile1560=
ENST00000370225.3:c.4680T=	ENSP00000359245.3:p.Ile1560=
ENST00000460514.1:n.174T=
ENST00000536513.5:c.1056T=	ENSP00000439707.2:p.Ile352=
NM_000350.2:c.4680T=	NP_000341.2:p.Ile1560=
NM_000350.3:c.4680T= MANE Select	NP_000341.2:p.Ile1560=