Canonical Allele Identifier: CA227010

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94055138C>T , CM000663.2:g.94055138C>T	GRCh38
NC_000001.10:g.94520694C>T , CM000663.1:g.94520694C>T	GRCh37
NC_000001.9:g.94293282C>T	NCBI36
NG_009073.1:g.71012G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000350.3:c.2560G>A MANE Select	NP_000341.2:p.Ala854Thr
ENST00000370225.4:c.2560G>A MANE Select	ENSP00000359245.3:p.Ala854Thr
NM_000350.2:c.2560G>A	NP_000341.2:p.Ala854Thr
ENST00000370225.3:c.2560G>A	ENSP00000359245.3:p.Ala854Thr
ENST00000536513.5:c.-65+8036G>A	ENSP00000439707.2:n.-65+8036G>A
ENST00000649773.1:c.2338G>A	ENSP00000496882.1:p.Ala780Thr