Canonical Allele Identifier: CA2574438272

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060485G>T , CM000663.2:g.94060485G>T	GRCh38
NC_000001.10:g.94526041G>T , CM000663.1:g.94526041G>T	GRCh37
NC_000001.9:g.94298629G>T	NCBI36
NG_009073.1:g.65665C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2160+52C>A MANE Select	ENSP00000359245.3:n.2160+52C>A
ENST00000649773.1:c.2160+52C>A	ENSP00000496882.1:n.2160+52C>A
ENST00000370225.3:c.2160+52C>A	ENSP00000359245.3:n.2160+52C>A
ENST00000472033.1:n.280+52C>A
ENST00000536513.5:c.-65+2689C>A	ENSP00000439707.2:n.-65+2689C>A
NM_000350.2:c.2160+52C>A	NP_000341.2:n.2160+52C>A
NM_000350.3:c.2160+52C>A MANE Select	NP_000341.2:n.2160+52C>A