Canonical Allele Identifier: CA2744618305

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94046806A>C , CM000663.2:g.94046806A>C	GRCh38
NC_000001.10:g.94512362A>C , CM000663.1:g.94512362A>C	GRCh37
NC_000001.9:g.94284950A>C	NCBI36
NG_009073.1:g.79344T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.2918+113T>G MANE Select	ENSP00000359245.3:n.2918+113T>G
ENST00000649773.1:c.2696+113T>G	ENSP00000496882.1:n.2696+113T>G
ENST00000370225.3:c.2918+113T>G	ENSP00000359245.3:n.2918+113T>G
ENST00000536513.5:c.-64-6717T>G	ENSP00000439707.2:n.-64-6717T>G
NM_000350.2:c.2918+113T>G	NP_000341.2:n.2918+113T>G
NM_000350.3:c.2918+113T>G MANE Select	NP_000341.2:n.2918+113T>G