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: CA127247318

Gene: TH2LCRR HGNC NCBI

Linked Data

dbSNP Id: rs570401811

gnomAD v3: 5-132655307-G-A

gnomAD v4: 5-132655307-G-A

MyVariant Identifiers: chr5:g.131990999G>A (hg19) chr5:g.132655307G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132655307G>A , CM000667.2:g.132655307G>A	GRCh38
NC_000005.9:g.131990999G>A , CM000667.1:g.131990999G>A	GRCh37
NC_000005.8:g.132018898G>A	NCBI36
NG_012090.1:g.2135G>A

Transcript Alleles

HGVS	Amino-acid change
NR_132125.1:n.104+744C>T
NR_132126.1:n.174+412C>T

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