Canonical Allele Identifier: CA1181419847

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041009G= , CM000663.2:g.94041009G=	GRCh38
NC_000001.10:g.94506565G= , CM000663.1:g.94506565G=	GRCh37
NC_000001.9:g.94279153G=	NCBI36
NG_009073.1:g.85141C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3522+200C= MANE Select	ENSP00000359245.3:n.3522+200C=
ENST00000370225.3:c.3522+200C=	ENSP00000359245.3:n.3522+200C=
ENST00000536513.5:c.-64-920C=	ENSP00000439707.2:n.-64-920C=
NM_000350.2:c.3522+200C=	NP_000341.2:n.3522+200C=
NM_000350.3:c.3522+200C= MANE Select	NP_000341.2:n.3522+200C=