Canonical Allele Identifier: CA869018766
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1404620576
gnomAD v3: 9-97851837-G-A
gnomAD v4: 9-97851837-G-A
MyVariant Identifiers: chr9:g.100614119G>A (hg19) chr9:g.97851837G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851837G>A , CM000671.2:g.97851837G>A GRCh38
NC_000009.11:g.100614119G>A , CM000671.1:g.100614119G>A GRCh37
NC_000009.10:g.99653940G>A NCBI36
NG_011979.1:g.3583G>A

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+1039C>T
XR_930159.1:n.218+1039C>T
XR_930160.1:n.218+1039C>T
XR_930161.1:n.218+1039C>T
NR_147055.1:n.165+1079C>T
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