Canonical Allele Identifier: CA1127875731

Gene:

Linked Data

• dbSNP Id: rs995318388
• gnomAD v3: 9-108093050-G-A
• gnomAD v4: 9-108093050-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108093050G>A , CM000671.2:g.108093050G>A	GRCh38
NC_000009.11:g.110855331G>A , CM000671.1:g.110855331G>A	GRCh37
NC_000009.10:g.109895152G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_930239.1:n.461-39756C>T
XR_001746881.1:n.668-39756C>T
XR_001746882.1:n.668-39756C>T