Canonical Allele Identifier: CA235750

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047022C>A , CM000663.2:g.94047022C>A	GRCh38
NC_000001.10:g.94512578C>A , CM000663.1:g.94512578C>A	GRCh37
NC_000001.9:g.94285166C>A	NCBI36
NG_009073.1:g.79128G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000350.3:c.2815G>T MANE Select	NP_000341.2:p.Glu939Ter
ENST00000370225.4:c.2815G>T MANE Select	ENSP00000359245.3:p.Glu939Ter
NM_000350.2:c.2815G>T	NP_000341.2:p.Glu939Ter
ENST00000370225.3:c.2815G>T	ENSP00000359245.3:p.Glu939Ter
ENST00000536513.5:c.-64-6933G>T	ENSP00000439707.2:n.-64-6933G>T
ENST00000649773.1:c.2593G>T	ENSP00000496882.1:p.Glu865Ter