Canonical Allele Identifier: CA869018744

Gene: PTCSC2

Linked Data

• dbSNP Id: rs1487935306
• gnomAD v3: 9-97851785-C-T
• gnomAD v4: 9-97851785-C-T
• MyVariant Identifiers: chr9:g.100614067C>T (hg19) ; chr9:g.97851785C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97851785C>T , CM000671.2:g.97851785C>T	GRCh38
NC_000009.11:g.100614067C>T , CM000671.1:g.100614067C>T	GRCh37
NC_000009.10:g.99653888C>T	NCBI36
NG_011979.1:g.3531C>T

Transcript Alleles

HGVS	Amino-acid Change
XR_930158.1:n.218+1091G>A
XR_930159.1:n.218+1091G>A
XR_930160.1:n.218+1091G>A
XR_930161.1:n.218+1091G>A
NR_147055.1:n.165+1131G>A