Canonical Allele Identifier: CA1181418851

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062704T= , CM000663.2:g.94062704T=	GRCh38
NC_000001.10:g.94528260T= , CM000663.1:g.94528260T=	GRCh37
NC_000001.9:g.94300848T=	NCBI36
NG_009073.1:g.63446A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1810A= MANE Select	ENSP00000359245.3:p.Ile604=
ENST00000649773.1:c.1810A=	ENSP00000496882.1:p.Ile604=
ENST00000370225.3:c.1810A=	ENSP00000359245.3:p.Ile604=
ENST00000536513.5:c.-65+470A=	ENSP00000439707.2:n.-65+470A=
NM_000350.2:c.1810A=	NP_000341.2:p.Ile604=
NM_000350.3:c.1810A= MANE Select	NP_000341.2:p.Ile604=