Canonical Allele Identifier: CA982866915

Gene:

Linked Data

• gnomAD v3: 17-30237402-T-A
• gnomAD v4: 17-30237402-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237402T>A , CM000679.2:g.30237402T>A	GRCh38
NC_000017.10:g.28564420T>A , CM000679.1:g.28564420T>A	GRCh37
NC_000017.9:g.25588546T>A	NCBI36
NG_011747.2:g.3535A>T

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.166-240T>A
XR_001752824.1:n.281-240T>A