Canonical Allele Identifier: CA418824211

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94495022G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94029466G>T , CM000663.2:g.94029466G>T	GRCh38
NC_000001.10:g.94495022G>T , CM000663.1:g.94495022G>T	GRCh37
NC_000001.9:g.94267610G>T	NCBI36
NG_009073.1:g.96684C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4518C>A MANE Select	ENSP00000359245.3:p.Ala1506=
ENST00000370225.3:c.4518C>A	ENSP00000359245.3:p.Ala1506=
ENST00000536513.5:c.894C>A	ENSP00000439707.2:p.Ala298=
NM_000350.2:c.4518C>A	NP_000341.2:p.Ala1506=
NM_000350.3:c.4518C>A MANE Select	NP_000341.2:p.Ala1506=