Canonical Allele Identifier: CA341283702
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021707A>G , CM000663.2:g.94021707A>G GRCh38
NC_000001.10:g.94487263A>G , CM000663.1:g.94487263A>G GRCh37
NC_000001.9:g.94259851A>G NCBI36
NG_009073.1:g.104443T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4781T>C MANE Select ENSP00000359245.3:p.Ile1594Thr
ENST00000370225.3:c.4781T>C ENSP00000359245.3:p.Ile1594Thr
ENST00000460514.1:n.275T>C
ENST00000536513.5:c.1157T>C ENSP00000439707.2:p.Ile386Thr
NM_000350.2:c.4781T>C NP_000341.2:p.Ile1594Thr
NM_000350.3:c.4781T>C MANE Select NP_000341.2:p.Ile1594Thr