Canonical Allele Identifier: CA313629840

Gene:

Linked Data

• dbSNP Id: rs532259921
• gnomAD v2: 20-23642501-A-G
• gnomAD v3: 20-23661864-A-G
• gnomAD v4: 20-23661864-A-G
• MyVariant Identifiers: chr20:g.23642501A>G (hg19) ; chr20:g.23661864A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.23661864A>G , CM000682.2:g.23661864A>G	GRCh38
NC_000020.10:g.23642501A>G , CM000682.1:g.23642501A>G	GRCh37
NC_000020.9:g.23590501A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001754712.1:n.280+214A>G