Canonical Allele Identifier: CA1145192160

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047080T= , CM000663.2:g.94047080T=	GRCh38
NC_000001.10:g.94512636T= , CM000663.1:g.94512636T=	GRCh37
NC_000001.9:g.94285224T=	NCBI36
NG_009073.1:g.79070A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2757A= MANE Select	ENSP00000359245.3:p.Glu919=
ENST00000649773.1:c.2535A=	ENSP00000496882.1:p.Glu845=
ENST00000370225.3:c.2757A=	ENSP00000359245.3:p.Glu919=
ENST00000536513.5:c.-64-6991A=	ENSP00000439707.2:n.-64-6991A=
NM_000350.2:c.2757A=	NP_000341.2:p.Glu919=
NM_000350.3:c.2757A= MANE Select	NP_000341.2:p.Glu919=