Canonical Allele Identifier: CA869004602
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1313561625
gnomAD v3: 9-97793818-C-A
gnomAD v4: 9-97793818-C-A
MyVariant Identifiers: chr9:g.100556100C>A (hg19) chr9:g.97793818C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97793818C>A , CM000671.2:g.97793818C>A GRCh38
NC_000009.11:g.100556100C>A , CM000671.1:g.100556100C>A GRCh37
NC_000009.10:g.99595921C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930161.1:n.363+16077G>T
XR_930162.1:n.6503C>A
NR_147055.1:n.777+10433G>T
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