Canonical Allele Identifier: CA227357

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94007710C>T , CM000663.2:g.94007710C>T	GRCh38
NC_000001.10:g.94473266C>T , CM000663.1:g.94473266C>T	GRCh37
NC_000001.9:g.94245854C>T	NCBI36
NG_009073.1:g.118440G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000350.3:c.5929G>A MANE Select	NP_000341.2:p.Gly1977Ser
ENST00000370225.4:c.5929G>A MANE Select	ENSP00000359245.3:p.Gly1977Ser
NM_000350.2:c.5929G>A	NP_000341.2:p.Gly1977Ser
ENST00000370225.3:c.5929G>A	ENSP00000359245.3:p.Gly1977Ser
ENST00000465352.1:n.345G>A
ENST00000484388.1:n.43G>A
ENST00000536513.5:c.2305G>A	ENSP00000439707.2:p.Gly769Ser