Canonical Allele Identifier: CA1181414931

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030471T= , CM000663.2:g.94030471T=	GRCh38
NC_000001.10:g.94496027T= , CM000663.1:g.94496027T=	GRCh37
NC_000001.9:g.94268615T=	NCBI36
NG_009073.1:g.95679A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4309A= MANE Select	ENSP00000359245.3:p.Lys1437=
ENST00000370225.3:c.4309A=	ENSP00000359245.3:p.Lys1437=
ENST00000536513.5:c.685A=	ENSP00000439707.2:p.Lys229=
NM_000350.2:c.4309A=	NP_000341.2:p.Lys1437=
NM_000350.3:c.4309A= MANE Select	NP_000341.2:p.Lys1437=