Canonical Allele Identifier: CA1146514378

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94001912C= , CM000663.2:g.94001912C=	GRCh38
NC_000001.10:g.94467468C= , CM000663.1:g.94467468C=	GRCh37
NC_000001.9:g.94240056C=	NCBI36
NG_009073.1:g.124238G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6228G= MANE Select	ENSP00000359245.3:p.Lys2076=
ENST00000370225.3:c.6228G=	ENSP00000359245.3:p.Lys2076=
ENST00000465352.1:n.644G=
ENST00000536513.5:c.2604G=	ENSP00000439707.2:p.Lys868=
NM_000350.2:c.6228G=	NP_000341.2:p.Lys2076=
NM_000350.3:c.6228G= MANE Select	NP_000341.2:p.Lys2076=