Canonical Allele Identifier: CA13034677
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97784318C>T , CM000671.2:g.97784318C>T GRCh38
NC_000009.11:g.100546600C>T , CM000671.1:g.100546600C>T GRCh37
NC_000009.10:g.99586421C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930161.1:n.363+25577G>A
NR_147055.1:n.777+19933G>A