Canonical Allele Identifier: CA197059111
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs947918942
gnomAD v3: 9-97852351-G-A
gnomAD v4: 9-97852351-G-A
MyVariant Identifiers: chr9:g.100614633G>A (hg19) chr9:g.97852351G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852351G>A , CM000671.2:g.97852351G>A GRCh38
NC_000009.11:g.100614633G>A , CM000671.1:g.100614633G>A GRCh37
NC_000009.10:g.99654454G>A NCBI36
NG_011979.1:g.4097G>A

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+525C>T
XR_930159.1:n.218+525C>T
XR_930160.1:n.218+525C>T
XR_930161.1:n.218+525C>T
NR_147055.1:n.165+565C>T
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