Canonical Allele Identifier: CA1148299012
Gene: ABCA4 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060605A= , CM000663.2:g.94060605A= GRCh38
NC_000001.10:g.94526161A= , CM000663.1:g.94526161A= GRCh37
NC_000001.9:g.94298749A= NCBI36
NG_009073.1:g.65545T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2092T= MANE Select ENSP00000359245.3:p.Cys698=
ENST00000649773.1:c.2092T= ENSP00000496882.1:p.Cys698=
ENST00000370225.3:c.2092T= ENSP00000359245.3:p.Cys698=
ENST00000472033.1:n.212T=
ENST00000536513.5:c.-65+2569T= ENSP00000439707.2:n.-65+2569T=
NM_000350.2:c.2092T= NP_000341.2:p.Cys698=
NM_000350.3:c.2092T= MANE Select NP_000341.2:p.Cys698=
Search 100 bp 5'
Search 100 bp 3'