Canonical Allele Identifier: CA1866687909
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97786731A>T , CM000671.2:g.97786731A>T GRCh38
NC_000009.11:g.100549013A>T , CM000671.1:g.100549013A>T GRCh37
NC_000009.10:g.99588834A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930161.1:n.363+23164T>A
XR_930162.1:n.66A>T
NR_147055.1:n.777+17520T>A