Canonical Allele Identifier: CA1127160335
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1830045142

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97793890G>A , CM000671.2:g.97793890G>A GRCh38
NC_000009.11:g.100556172G>A , CM000671.1:g.100556172G>A GRCh37
NC_000009.10:g.99595993G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_930161.1:n.363+16005C>T
NR_147055.1:n.777+10361C>T