Canonical Allele Identifier: CA2646646362
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94008201-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94008201G>T , CM000663.2:g.94008201G>T GRCh38
NC_000001.10:g.94473757G>T , CM000663.1:g.94473757G>T GRCh37
NC_000001.9:g.94246345G>T NCBI36
NG_009073.1:g.117949C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5898+34C>A MANE Select ENSP00000359245.3:n.5898+34C>A
ENST00000370225.3:c.5898+34C>A ENSP00000359245.3:n.5898+34C>A
ENST00000465352.1:n.314+34C>A
ENST00000536513.5:c.2274+34C>A ENSP00000439707.2:n.2274+34C>A
NM_000350.2:c.5898+34C>A NP_000341.2:n.5898+34C>A
NM_000350.3:c.5898+34C>A MANE Select NP_000341.2:n.5898+34C>A
Search 100 bp 5'
Search 100 bp 3'