Canonical Allele Identifier: CA589533530

Gene: PTCSC2

Linked Data

• dbSNP Id: rs1353487770
• gnomAD v2: 9-100556013-T-A
• gnomAD v3: 9-97793731-T-A
• gnomAD v4: 9-97793731-T-A
• MyVariant Identifiers: chr9:g.100556013T>A (hg19) ; chr9:g.97793731T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97793731T>A , CM000671.2:g.97793731T>A	GRCh38
NC_000009.11:g.100556013T>A , CM000671.1:g.100556013T>A	GRCh37
NC_000009.10:g.99595834T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_930161.1:n.363+16164A>T
XR_930162.1:n.6416T>A
NR_147055.1:n.777+10520A>T