Canonical Allele Identifier: CA982866245
Gene:

Linked Data

gnomAD v3: 17-30237283-G-A
gnomAD v4: 17-30237283-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237283G>A , CM000679.2:g.30237283G>A GRCh38
NC_000017.10:g.28564301G>A , CM000679.1:g.28564301G>A GRCh37
NC_000017.9:g.25588427G>A NCBI36
NG_011747.2:g.3654C>T

Transcript Alleles

HGVS Amino-acid Change
XR_934654.1:n.165+213G>A
XR_001752824.1:n.280+213G>A
Search 100 bp 5'
Search 100 bp 3'