Canonical Allele Identifier: CA341278201
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001893T>G , CM000663.2:g.94001893T>G GRCh38
NC_000001.10:g.94467449T>G , CM000663.1:g.94467449T>G GRCh37
NC_000001.9:g.94240037T>G NCBI36
NG_009073.1:g.124257A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.6247A>C MANE Select ENSP00000359245.3:p.Ile2083Leu
ENST00000370225.3:c.6247A>C ENSP00000359245.3:p.Ile2083Leu
ENST00000465352.1:n.663A>C
ENST00000536513.5:c.2623A>C ENSP00000439707.2:p.Ile875Leu
NM_000350.2:c.6247A>C NP_000341.2:p.Ile2083Leu
NM_000350.3:c.6247A>C MANE Select NP_000341.2:p.Ile2083Leu