Canonical Allele Identifier: CA1181398579

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94001906T= , CM000663.2:g.94001906T=	GRCh38
NC_000001.10:g.94467462T= , CM000663.1:g.94467462T=	GRCh37
NC_000001.9:g.94240050T=	NCBI36
NG_009073.1:g.124244A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.6234A= MANE Select	ENSP00000359245.3:p.Lys2078=
ENST00000370225.3:c.6234A=	ENSP00000359245.3:p.Lys2078=
ENST00000465352.1:n.650A=
ENST00000536513.5:c.2610A=	ENSP00000439707.2:p.Lys870=
NM_000350.2:c.6234A=	NP_000341.2:p.Lys2078=
NM_000350.3:c.6234A= MANE Select	NP_000341.2:p.Lys2078=