Canonical Allele Identifier: CA2744621314

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94111805T>A , CM000663.2:g.94111805T>A	GRCh38
NC_000001.10:g.94577361T>A , CM000663.1:g.94577361T>A	GRCh37
NC_000001.9:g.94349949T>A	NCBI36
NG_009073.1:g.14345A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.161-226A>T MANE Select	ENSP00000359245.3:n.161-226A>T
ENST00000649773.1:c.161-226A>T	ENSP00000496882.1:n.161-226A>T
ENST00000370225.3:c.161-226A>T	ENSP00000359245.3:n.161-226A>T
NM_000350.2:c.161-226A>T	NP_000341.2:n.161-226A>T
NM_000350.3:c.161-226A>T MANE Select	NP_000341.2:n.161-226A>T