Canonical Allele Identifier: CA1127207933
Gene: PTCSC2 HGNC NCBI

Linked Data

gnomAD v3: 9-97851883-T-C
gnomAD v4: 9-97851883-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851883T>C , CM000671.2:g.97851883T>C GRCh38
NC_000009.11:g.100614165T>C , CM000671.1:g.100614165T>C GRCh37
NC_000009.10:g.99653986T>C NCBI36
NG_011979.1:g.3629T>C

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+993A>G
XR_930159.1:n.218+993A>G
XR_930160.1:n.218+993A>G
XR_930161.1:n.218+993A>G
NR_147055.1:n.165+1033A>G
Search 100 bp 5'
Search 100 bp 3'