Canonical Allele Identifier: CA13034687

Gene: PTCSC2

Linked Data

• dbSNP Id: rs3758248
• gnomAD v2: 9-100614601-G-A
• gnomAD v3: 9-97852319-G-A
• gnomAD v4: 9-97852319-G-A
• MyVariant Identifiers: chr9:g.100614601G>A (hg19) ; chr9:g.97852319G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97852319G>A , CM000671.2:g.97852319G>A	GRCh38
NC_000009.11:g.100614601G>A , CM000671.1:g.100614601G>A	GRCh37
NC_000009.10:g.99654422G>A	NCBI36
NG_011979.1:g.4065G>A

Transcript Alleles

HGVS	Amino-acid Change
XR_930158.1:n.218+557C>T
XR_930159.1:n.218+557C>T
XR_930160.1:n.218+557C>T
XR_930161.1:n.218+557C>T
NR_147055.1:n.165+597C>T