Canonical Allele Identifier: CA1140725979

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94056688A= , CM000663.2:g.94056688A=	GRCh38
NC_000001.10:g.94522244A= , CM000663.1:g.94522244A=	GRCh37
NC_000001.9:g.94294832A=	NCBI36
NG_009073.1:g.69462T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2295T= MANE Select	ENSP00000359245.3:p.Ser765=
ENST00000649773.1:c.2161-1373T=	ENSP00000496882.1:n.2161-1373T=
ENST00000370225.3:c.2295T=	ENSP00000359245.3:p.Ser765=
ENST00000536513.5:c.-65+6486T=	ENSP00000439707.2:n.-65+6486T=
NM_000350.2:c.2295T=	NP_000341.2:p.Ser765=
NM_000350.3:c.2295T= MANE Select	NP_000341.2:p.Ser765=