Canonical Allele Identifier: CA291560846

Gene:

Linked Data

• dbSNP Id: rs560672159
• gnomAD v2: 17-48289251-G-A
• gnomAD v3: 17-50211890-G-A
• gnomAD v4: 17-50211890-G-A
• MyVariant Identifiers: chr17:g.48289251G>A (hg19) ; chr17:g.50211890G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50211890G>A , CM000679.2:g.50211890G>A	GRCh38
NC_000017.10:g.48289251G>A , CM000679.1:g.48289251G>A	GRCh37
NC_000017.9:g.45644250G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_934838.1:n.43-1945G>A