Canonical Allele Identifier: CA2744615593

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021056A>C , CM000663.2:g.94021056A>C	GRCh38
NC_000001.10:g.94486612A>C , CM000663.1:g.94486612A>C	GRCh37
NC_000001.9:g.94259200A>C	NCBI36
NG_009073.1:g.105094T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5018+184T>G MANE Select	ENSP00000359245.3:n.5018+184T>G
ENST00000370225.3:c.5018+184T>G	ENSP00000359245.3:n.5018+184T>G
ENST00000460514.1:n.512+184T>G
ENST00000470771.1:n.128+184T>G
ENST00000536513.5:c.1394+184T>G	ENSP00000439707.2:n.1394+184T>G
NM_000350.2:c.5018+184T>G	NP_000341.2:n.5018+184T>G
NM_000350.3:c.5018+184T>G MANE Select	NP_000341.2:n.5018+184T>G