Canonical Allele Identifier: CA341281060
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94011308A>C , CM000663.2:g.94011308A>C GRCh38
NC_000001.10:g.94476864A>C , CM000663.1:g.94476864A>C GRCh37
NC_000001.9:g.94249452A>C NCBI36
NG_009073.1:g.114842T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5538T>G MANE Select ENSP00000359245.3:p.Ile1846Met
ENST00000370225.3:c.5538T>G ENSP00000359245.3:p.Ile1846Met
ENST00000536513.5:c.1914T>G ENSP00000439707.2:p.Ile638Met
NM_000350.2:c.5538T>G NP_000341.2:p.Ile1846Met
NM_000350.3:c.5538T>G MANE Select NP_000341.2:p.Ile1846Met