Canonical Allele Identifier: CA1866691004
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1830045229

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97793894G>A , CM000671.2:g.97793894G>A GRCh38
NC_000009.11:g.100556176G>A , CM000671.1:g.100556176G>A GRCh37
NC_000009.10:g.99595997G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930161.1:n.363+16001C>T
NR_147055.1:n.777+10357C>T