Canonical Allele Identifier: CA1181420025

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041258G= , CM000663.2:g.94041258G=	GRCh38
NC_000001.10:g.94506814G= , CM000663.1:g.94506814G=	GRCh37
NC_000001.9:g.94279402G=	NCBI36
NG_009073.1:g.84892C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3473C= MANE Select	ENSP00000359245.3:p.Thr1158=
ENST00000370225.3:c.3473C=	ENSP00000359245.3:p.Thr1158=
ENST00000536513.5:c.-64-1169C=	ENSP00000439707.2:n.-64-1169C=
NM_000350.2:c.3473C=	NP_000341.2:p.Thr1158=
NM_000350.3:c.3473C= MANE Select	NP_000341.2:p.Thr1158=