Canonical Allele Identifier: CA2646650006
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94031706-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94031706A>T , CM000663.2:g.94031706A>T GRCh38
NC_000001.10:g.94497262A>T , CM000663.1:g.94497262A>T GRCh37
NC_000001.9:g.94269850A>T NCBI36
NG_009073.1:g.94444T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4128+72T>A MANE Select ENSP00000359245.3:n.4128+72T>A
ENST00000370225.3:c.4128+72T>A ENSP00000359245.3:n.4128+72T>A
ENST00000536513.5:c.504+72T>A ENSP00000439707.2:n.504+72T>A
NM_000350.2:c.4128+72T>A NP_000341.2:n.4128+72T>A
NM_000350.3:c.4128+72T>A MANE Select NP_000341.2:n.4128+72T>A