Canonical Allele Identifier: CA1141516954

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041542A= , CM000663.2:g.94041542A=	GRCh38
NC_000001.10:g.94507098A= , CM000663.1:g.94507098A=	GRCh37
NC_000001.9:g.94279686A=	NCBI36
NG_009073.1:g.84608T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-140T= MANE Select	ENSP00000359245.3:n.3329-140T=
ENST00000370225.3:c.3329-140T=	ENSP00000359245.3:n.3329-140T=
ENST00000536513.5:c.-64-1453T=	ENSP00000439707.2:n.-64-1453T=
NM_000350.2:c.3329-140T=	NP_000341.2:n.3329-140T=
NM_000350.3:c.3329-140T= MANE Select	NP_000341.2:n.3329-140T=