Canonical Allele Identifier: CA418821837

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94487247A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021691A>T , CM000663.2:g.94021691A>T	GRCh38
NC_000001.10:g.94487247A>T , CM000663.1:g.94487247A>T	GRCh37
NC_000001.9:g.94259835A>T	NCBI36
NG_009073.1:g.104459T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4797T>A MANE Select	ENSP00000359245.3:p.Ser1599=
ENST00000370225.3:c.4797T>A	ENSP00000359245.3:p.Ser1599=
ENST00000460514.1:n.291T>A
ENST00000536513.5:c.1173T>A	ENSP00000439707.2:p.Ser391=
NM_000350.2:c.4797T>A	NP_000341.2:p.Ser1599=
NM_000350.3:c.4797T>A MANE Select	NP_000341.2:p.Ser1599=