Canonical Allele Identifier: CA772782652

Gene:

Linked Data

• dbSNP Id: rs1332566939
• gnomAD v3: 17-50211644-G-T
• gnomAD v4: 17-50211644-G-T
• MyVariant Identifiers: chr17:g.48289005G>T (hg19) ; chr17:g.50211644G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50211644G>T , CM000679.2:g.50211644G>T	GRCh38
NC_000017.10:g.48289005G>T , CM000679.1:g.48289005G>T	GRCh37
NC_000017.9:g.45644004G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_934838.1:n.43-2191G>T