Canonical Allele Identifier: CA197053086

Gene: PTCSC2

Linked Data

• dbSNP Id: rs956146787
• gnomAD v3: 9-97793732-G-A
• gnomAD v4: 9-97793732-G-A
• MyVariant Identifiers: chr9:g.100556014G>A (hg19) ; chr9:g.97793732G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97793732G>A , CM000671.2:g.97793732G>A	GRCh38
NC_000009.11:g.100556014G>A , CM000671.1:g.100556014G>A	GRCh37
NC_000009.10:g.99595835G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_930161.1:n.363+16163C>T
XR_930162.1:n.6417G>A
NR_147055.1:n.777+10519C>T