Canonical Allele Identifier: CA341279897
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94008263C>G , CM000663.2:g.94008263C>G GRCh38
NC_000001.10:g.94473819C>G , CM000663.1:g.94473819C>G GRCh37
NC_000001.9:g.94246407C>G NCBI36
NG_009073.1:g.117887G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.5870G>C MANE Select ENSP00000359245.3:p.Arg1957Thr
ENST00000370225.3:c.5870G>C ENSP00000359245.3:p.Arg1957Thr
ENST00000465352.1:n.286G>C
ENST00000536513.5:c.2246G>C ENSP00000439707.2:p.Arg749Thr
NM_000350.2:c.5870G>C NP_000341.2:p.Arg1957Thr
NM_000350.3:c.5870G>C MANE Select NP_000341.2:p.Arg1957Thr