Canonical Allele Identifier: CA1181398659

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94001948G= , CM000663.2:g.94001948G=	GRCh38
NC_000001.10:g.94467504G= , CM000663.1:g.94467504G=	GRCh37
NC_000001.9:g.94240092G=	NCBI36
NG_009073.1:g.124202C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6192C= MANE Select	ENSP00000359245.3:p.Ala2064=
ENST00000370225.3:c.6192C=	ENSP00000359245.3:p.Ala2064=
ENST00000465352.1:n.608C=
ENST00000536513.5:c.2568C=	ENSP00000439707.2:p.Ala856=
NM_000350.2:c.6192C=	NP_000341.2:p.Ala2064=
NM_000350.3:c.6192C= MANE Select	NP_000341.2:p.Ala2064=