Canonical Allele Identifier: CA35069273

Gene:

Linked Data

• dbSNP Id: rs555620542
• gnomAD v3: 1-192800697-G-A
• gnomAD v4: 1-192800697-G-A
• MyVariant Identifiers: chr1:g.192769827G>A (hg19) ; chr1:g.192800697G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.192800697G>A , CM000663.2:g.192800697G>A	GRCh38
NC_000001.10:g.192769827G>A , CM000663.1:g.192769827G>A	GRCh37
NC_000001.9:g.191036450G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429211.2:n.127G>A