Canonical Allele Identifier: CA197059173
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1017744848
gnomAD v3: 9-97852884-G-A
gnomAD v4: 9-97852884-G-A
MyVariant Identifiers: chr9:g.100615166G>A (hg19) chr9:g.97852884G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852884G>A , CM000671.2:g.97852884G>A GRCh38
NC_000009.11:g.100615166G>A , CM000671.1:g.100615166G>A GRCh37
NC_000009.10:g.99654987G>A NCBI36
NG_011979.1:g.4630G>A

Transcript Alleles

HGVS Amino-acid change
XR_930158.1:n.210C>T
XR_930159.1:n.210C>T
XR_930160.1:n.210C>T
XR_930161.1:n.210C>T
NR_147055.1:n.165+32C>T
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