Canonical Allele Identifier: CA2744614514

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94011409T>C , CM000663.2:g.94011409T>C	GRCh38
NC_000001.10:g.94476965T>C , CM000663.1:g.94476965T>C	GRCh37
NC_000001.9:g.94249553T>C	NCBI36
NG_009073.1:g.114741A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5461-24A>G MANE Select	ENSP00000359245.3:n.5461-24A>G
ENST00000370225.3:c.5461-24A>G	ENSP00000359245.3:n.5461-24A>G
ENST00000536513.5:c.1837-24A>G	ENSP00000439707.2:n.1837-24A>G
NM_000350.2:c.5461-24A>G	NP_000341.2:n.5461-24A>G
NM_000350.3:c.5461-24A>G MANE Select	NP_000341.2:n.5461-24A>G