Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA869019251

Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1332244290

gnomAD v3: 9-97852081-G-A

gnomAD v4: 9-97852081-G-A

MyVariant Identifiers: chr9:g.100614363G>A (hg19) chr9:g.97852081G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97852081G>A , CM000671.2:g.97852081G>A	GRCh38
NC_000009.11:g.100614363G>A , CM000671.1:g.100614363G>A	GRCh37
NC_000009.10:g.99654184G>A	NCBI36
NG_011979.1:g.3827G>A

Transcript Alleles

HGVS	Amino-acid change
XR_930158.1:n.218+795C>T
XR_930159.1:n.218+795C>T
XR_930160.1:n.218+795C>T
XR_930161.1:n.218+795C>T
NR_147055.1:n.165+835C>T

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