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: CA1138972616

Gene: TTTY11 HGNC NCBI

Linked Data

dbSNP Id: rs2015543058

gnomAD v3: Y-8812612-C-G

gnomAD v4: Y-8812612-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.8812612C>G , CM000686.2:g.8812612C>G	GRCh38
NC_000024.9:g.8680653C>G , CM000686.1:g.8680653C>G	GRCh37
NC_000024.8:g.8740653C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000253470.4:n.37+4734G>C
NR_001548.2:n.37+4734G>C

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