Canonical Allele Identifier: CA1181420129

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041557C= , CM000663.2:g.94041557C=	GRCh38
NC_000001.10:g.94507113C= , CM000663.1:g.94507113C=	GRCh37
NC_000001.9:g.94279701C=	NCBI36
NG_009073.1:g.84593G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-155G= MANE Select	ENSP00000359245.3:n.3329-155G=
ENST00000370225.3:c.3329-155G=	ENSP00000359245.3:n.3329-155G=
ENST00000536513.5:c.-64-1468G=	ENSP00000439707.2:n.-64-1468G=
NM_000350.2:c.3329-155G=	NP_000341.2:n.3329-155G=
NM_000350.3:c.3329-155G= MANE Select	NP_000341.2:n.3329-155G=