Canonical Allele Identifier: CA2744614810

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94008204G>A , CM000663.2:g.94008204G>A	GRCh38
NC_000001.10:g.94473760G>A , CM000663.1:g.94473760G>A	GRCh37
NC_000001.9:g.94246348G>A	NCBI36
NG_009073.1:g.117946C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5898+31C>T MANE Select	ENSP00000359245.3:n.5898+31C>T
ENST00000370225.3:c.5898+31C>T	ENSP00000359245.3:n.5898+31C>T
ENST00000465352.1:n.314+31C>T
ENST00000536513.5:c.2274+31C>T	ENSP00000439707.2:n.2274+31C>T
NM_000350.2:c.5898+31C>T	NP_000341.2:n.5898+31C>T
NM_000350.3:c.5898+31C>T MANE Select	NP_000341.2:n.5898+31C>T