Canonical Allele Identifier: CA1127160339

Gene: PTCSC2

Linked Data

• dbSNP Id: rs1830045480
• gnomAD v3: 9-97793930-C-T
• gnomAD v4: 9-97793930-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97793930C>T , CM000671.2:g.97793930C>T	GRCh38
NC_000009.11:g.100556212C>T , CM000671.1:g.100556212C>T	GRCh37
NC_000009.10:g.99596033C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_930161.1:n.363+15965G>A
NR_147055.1:n.777+10321G>A