Canonical Allele Identifier: CA197053096

Gene: PTCSC2

Linked Data

• dbSNP Id: rs865854824
• gnomAD v3: 9-97793903-A-G
• gnomAD v4: 9-97793903-A-G
• MyVariant Identifiers: chr9:g.100556185A>G (hg19) ; chr9:g.97793903A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97793903A>G , CM000671.2:g.97793903A>G	GRCh38
NC_000009.11:g.100556185A>G , CM000671.1:g.100556185A>G	GRCh37
NC_000009.10:g.99596006A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_930161.1:n.363+15992T>C
NR_147055.1:n.777+10348T>C