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: CA589532989

Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1377292333

gnomAD v2: 9-100614233-C-G

gnomAD v3: 9-97851951-C-G

gnomAD v4: 9-97851951-C-G

MyVariant Identifiers: chr9:g.100614233C>G (hg19) chr9:g.97851951C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97851951C>G , CM000671.2:g.97851951C>G	GRCh38
NC_000009.11:g.100614233C>G , CM000671.1:g.100614233C>G	GRCh37
NC_000009.10:g.99654054C>G	NCBI36
NG_011979.1:g.3697C>G

Transcript Alleles

HGVS	Amino-acid change
XR_930158.1:n.218+925G>C
XR_930159.1:n.218+925G>C
XR_930160.1:n.218+925G>C
XR_930161.1:n.218+925G>C
NR_147055.1:n.165+965G>C

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