Canonical Allele Identifier: CA341291246
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs376831329

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041372A>T , CM000663.2:g.94041372A>T GRCh38
NC_000001.10:g.94506928A>T , CM000663.1:g.94506928A>T GRCh37
NC_000001.9:g.94279516A>T NCBI36
NG_009073.1:g.84778T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3359T>A MANE Select ENSP00000359245.3:p.Met1120Lys
ENST00000370225.3:c.3359T>A ENSP00000359245.3:p.Met1120Lys
ENST00000536513.5:c.-64-1283T>A ENSP00000439707.2:n.-64-1283T>A
NM_000350.2:c.3359T>A NP_000341.2:p.Met1120Lys
NM_000350.3:c.3359T>A MANE Select NP_000341.2:p.Met1120Lys