Canonical Allele Identifier: CA291560834

Gene:

Linked Data

• dbSNP Id: rs952557215
• gnomAD v3: 17-50211769-G-A
• gnomAD v4: 17-50211769-G-A
• MyVariant Identifiers: chr17:g.48289130G>A (hg19) ; chr17:g.50211769G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50211769G>A , CM000679.2:g.50211769G>A	GRCh38
NC_000017.10:g.48289130G>A , CM000679.1:g.48289130G>A	GRCh37
NC_000017.9:g.45644129G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_934838.1:n.43-2066G>A