Canonical Allele Identifier: CA1181408086

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021266G= , CM000663.2:g.94021266G=	GRCh38
NC_000001.10:g.94486822G= , CM000663.1:g.94486822G=	GRCh37
NC_000001.9:g.94259410G=	NCBI36
NG_009073.1:g.104884C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4992C= MANE Select	ENSP00000359245.3:p.Thr1664=
ENST00000370225.3:c.4992C=	ENSP00000359245.3:p.Thr1664=
ENST00000460514.1:n.486C=
ENST00000470771.1:n.102C=
ENST00000536513.5:c.1368C=	ENSP00000439707.2:p.Thr456=
NM_000350.2:c.4992C=	NP_000341.2:p.Thr1664=
NM_000350.3:c.4992C= MANE Select	NP_000341.2:p.Thr1664=