Canonical Allele Identifier: CA197052304
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs756018677
gnomAD v3: 9-97786687-G-A
gnomAD v4: 9-97786687-G-A
MyVariant Identifiers: chr9:g.100548969G>A (hg19) chr9:g.97786687G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97786687G>A , CM000671.2:g.97786687G>A GRCh38
NC_000009.11:g.100548969G>A , CM000671.1:g.100548969G>A GRCh37
NC_000009.10:g.99588790G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_930161.1:n.363+23208C>T
XR_930162.1:n.22G>A
NR_147055.1:n.777+17564C>T
Search 100 bp 5'
Search 100 bp 3'