Canonical Allele Identifier: CA869004604
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97793827A>T , CM000671.2:g.97793827A>T GRCh38
NC_000009.11:g.100556109A>T , CM000671.1:g.100556109A>T GRCh37
NC_000009.10:g.99595930A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930161.1:n.363+16068T>A
XR_930162.1:n.6512A>T
NR_147055.1:n.777+10424T>A