Canonical Allele Identifier: CA1866666643
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1830588746

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851736G>A , CM000671.2:g.97851736G>A GRCh38
NC_000009.11:g.100614018G>A , CM000671.1:g.100614018G>A GRCh37
NC_000009.10:g.99653839G>A NCBI36
NG_011979.1:g.3482G>A

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+1140C>T
XR_930159.1:n.218+1140C>T
XR_930160.1:n.218+1140C>T
XR_930161.1:n.218+1140C>T
NR_147055.1:n.165+1180C>T