Canonical Allele Identifier: CA1181419893

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041076G= , CM000663.2:g.94041076G=	GRCh38
NC_000001.10:g.94506632G= , CM000663.1:g.94506632G=	GRCh37
NC_000001.9:g.94279220G=	NCBI36
NG_009073.1:g.85074C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3522+133C= MANE Select	ENSP00000359245.3:n.3522+133C=
ENST00000370225.3:c.3522+133C=	ENSP00000359245.3:n.3522+133C=
ENST00000536513.5:c.-64-987C=	ENSP00000439707.2:n.-64-987C=
NM_000350.2:c.3522+133C=	NP_000341.2:n.3522+133C=
NM_000350.3:c.3522+133C= MANE Select	NP_000341.2:n.3522+133C=