Canonical Allele Identifier: CA418821893

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94487423G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021867G>T , CM000663.2:g.94021867G>T	GRCh38
NC_000001.10:g.94487423G>T , CM000663.1:g.94487423G>T	GRCh37
NC_000001.9:g.94260011G>T	NCBI36
NG_009073.1:g.104283C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4752C>A MANE Select	ENSP00000359245.3:p.Gly1584=
ENST00000370225.3:c.4752C>A	ENSP00000359245.3:p.Gly1584=
ENST00000460514.1:n.246C>A
ENST00000536513.5:c.1128C>A	ENSP00000439707.2:p.Gly376=
NM_000350.2:c.4752C>A	NP_000341.2:p.Gly1584=
NM_000350.3:c.4752C>A MANE Select	NP_000341.2:p.Gly1584=