Canonical Allele Identifier: CA1866666672
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1587806947

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851786G>T , CM000671.2:g.97851786G>T GRCh38
NC_000009.11:g.100614068G>T , CM000671.1:g.100614068G>T GRCh37
NC_000009.10:g.99653889G>T NCBI36
NG_011979.1:g.3532G>T

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+1090C>A
XR_930159.1:n.218+1090C>A
XR_930160.1:n.218+1090C>A
XR_930161.1:n.218+1090C>A
NR_147055.1:n.165+1130C>A