Canonical Allele Identifier: CA341275529
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94047043T>G , CM000663.2:g.94047043T>G GRCh38
NC_000001.10:g.94512599T>G , CM000663.1:g.94512599T>G GRCh37
NC_000001.9:g.94285187T>G NCBI36
NG_009073.1:g.79107A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2794A>C MANE Select ENSP00000359245.3:p.Lys932Gln
ENST00000649773.1:c.2572A>C ENSP00000496882.1:p.Lys858Gln
ENST00000370225.3:c.2794A>C ENSP00000359245.3:p.Lys932Gln
ENST00000536513.5:c.-64-6954A>C ENSP00000439707.2:n.-64-6954A>C
NM_000350.2:c.2794A>C NP_000341.2:p.Lys932Gln
NM_000350.3:c.2794A>C MANE Select NP_000341.2:p.Lys932Gln