Canonical Allele Identifier: CA341276245
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997874G>C , CM000663.2:g.93997874G>C GRCh38
NC_000001.10:g.94463430G>C , CM000663.1:g.94463430G>C GRCh37
NC_000001.9:g.94236018G>C NCBI36
NG_009073.1:g.128276C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6716C>G MANE Select ENSP00000359245.3:p.Thr2239Ser
ENST00000370225.3:c.6716C>G ENSP00000359245.3:p.Thr2239Ser
ENST00000536513.5:c.3092C>G ENSP00000439707.2:p.Thr1031Ser
NM_000350.2:c.6716C>G NP_000341.2:p.Thr2239Ser
NM_000350.3:c.6716C>G MANE Select NP_000341.2:p.Thr2239Ser