Canonical Allele Identifier: CA589533535

Gene: PTCSC2

Linked Data

• dbSNP Id: rs1422567393
• gnomAD v2: 9-100556154-A-C
• gnomAD v3: 9-97793872-A-C
• gnomAD v4: 9-97793872-A-C
• MyVariant Identifiers: chr9:g.100556154A>C (hg19) ; chr9:g.97793872A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97793872A>C , CM000671.2:g.97793872A>C	GRCh38
NC_000009.11:g.100556154A>C , CM000671.1:g.100556154A>C	GRCh37
NC_000009.10:g.99595975A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_930161.1:n.363+16023T>G
XR_930162.1:n.6557A>C
NR_147055.1:n.777+10379T>G