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: CA1125097782

Gene: TMEM252-DT HGNC NCBI

Linked Data

dbSNP Id: rs140153408

gnomAD v3: 9-68578314-A-C

gnomAD v4: 9-68578314-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.68578314A>C , CM000671.2:g.68578314A>C	GRCh38
NC_000009.11:g.71193230A>C , CM000671.1:g.71193230A>C	GRCh37
NC_000009.10:g.70383050A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_929903.1:n.449+35672A>C
XR_001746701.2:n.342+35672A>C

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