Canonical Allele Identifier: CA341285038
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029552T>G , CM000663.2:g.94029552T>G GRCh38
NC_000001.10:g.94495108T>G , CM000663.1:g.94495108T>G GRCh37
NC_000001.9:g.94267696T>G NCBI36
NG_009073.1:g.96598A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4432A>C MANE Select ENSP00000359245.3:p.Lys1478Gln
ENST00000370225.3:c.4432A>C ENSP00000359245.3:p.Lys1478Gln
ENST00000536513.5:c.808A>C ENSP00000439707.2:p.Lys270Gln
NM_000350.2:c.4432A>C NP_000341.2:p.Lys1478Gln
NM_000350.3:c.4432A>C MANE Select NP_000341.2:p.Lys1478Gln