Canonical Allele Identifier: CA341281059
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94011307C>G , CM000663.2:g.94011307C>G GRCh38
NC_000001.10:g.94476863C>G , CM000663.1:g.94476863C>G GRCh37
NC_000001.9:g.94249451C>G NCBI36
NG_009073.1:g.114843G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5539G>C MANE Select ENSP00000359245.3:p.Asp1847His
ENST00000370225.3:c.5539G>C ENSP00000359245.3:p.Asp1847His
ENST00000536513.5:c.1915G>C ENSP00000439707.2:p.Asp639His
NM_000350.2:c.5539G>C NP_000341.2:p.Asp1847His
NM_000350.3:c.5539G>C MANE Select NP_000341.2:p.Asp1847His