Canonical Allele Identifier: CA1181422517

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94046735T= , CM000663.2:g.94046735T=	GRCh38
NC_000001.10:g.94512291T= , CM000663.1:g.94512291T=	GRCh37
NC_000001.9:g.94284879T=	NCBI36
NG_009073.1:g.79415A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.2918+184A= MANE Select	ENSP00000359245.3:n.2918+184A=
ENST00000649773.1:c.2696+184A=	ENSP00000496882.1:n.2696+184A=
ENST00000370225.3:c.2918+184A=	ENSP00000359245.3:n.2918+184A=
ENST00000536513.5:c.-64-6646A=	ENSP00000439707.2:n.-64-6646A=
NM_000350.2:c.2918+184A=	NP_000341.2:n.2918+184A=
NM_000350.3:c.2918+184A= MANE Select	NP_000341.2:n.2918+184A=