Canonical Allele Identifier: CA341291339
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041388T>A , CM000663.2:g.94041388T>A GRCh38
NC_000001.10:g.94506944T>A , CM000663.1:g.94506944T>A GRCh37
NC_000001.9:g.94279532T>A NCBI36
NG_009073.1:g.84762A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3343A>T MANE Select ENSP00000359245.3:p.Met1115Leu
ENST00000370225.3:c.3343A>T ENSP00000359245.3:p.Met1115Leu
ENST00000536513.5:c.-64-1299A>T ENSP00000439707.2:n.-64-1299A>T
NM_000350.2:c.3343A>T NP_000341.2:p.Met1115Leu
NM_000350.3:c.3343A>T MANE Select NP_000341.2:p.Met1115Leu