Canonical Allele Identifier: CA1866667623
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs374676758

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852276G>T , CM000671.2:g.97852276G>T GRCh38
NC_000009.11:g.100614558G>T , CM000671.1:g.100614558G>T GRCh37
NC_000009.10:g.99654379G>T NCBI36
NG_011979.1:g.4022G>T

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+600C>A
XR_930159.1:n.218+600C>A
XR_930160.1:n.218+600C>A
XR_930161.1:n.218+600C>A
NR_147055.1:n.165+640C>A