Canonical Allele Identifier: CA2574438213

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94046860G>T , CM000663.2:g.94046860G>T	GRCh38
NC_000001.10:g.94512416G>T , CM000663.1:g.94512416G>T	GRCh37
NC_000001.9:g.94285004G>T	NCBI36
NG_009073.1:g.79290C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2918+59C>A MANE Select	ENSP00000359245.3:n.2918+59C>A
ENST00000649773.1:c.2696+59C>A	ENSP00000496882.1:n.2696+59C>A
ENST00000370225.3:c.2918+59C>A	ENSP00000359245.3:n.2918+59C>A
ENST00000536513.5:c.-64-6771C>A	ENSP00000439707.2:n.-64-6771C>A
NM_000350.2:c.2918+59C>A	NP_000341.2:n.2918+59C>A
NM_000350.3:c.2918+59C>A MANE Select	NP_000341.2:n.2918+59C>A