Canonical Allele Identifier: CA2611999022
Gene:

Linked Data

gnomAD v4: 11-2444558-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444558G>A , CM000673.2:g.2444558G>A GRCh38
NC_000011.9:g.2465788G>A , CM000673.1:g.2465788G>A GRCh37
NC_000011.8:g.2422364G>A NCBI36
NG_008935.1:g.4568G>A , LRG_287:g.4568G>A

Transcript Alleles

HGVS Amino-acid Change
XR_930984.1:n.13C>T
Search 100 bp 5'
Search 100 bp 3'