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: CA911554165

Gene: SSUH2 HGNC NCBI

Linked Data

dbSNP Id: rs1214834709

gnomAD v4: 3-8733721-G-T

MyVariant Identifiers: chr3:g.8775407G>T (hg19) chr3:g.8733721G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8733721G>T , CM000665.2:g.8733721G>T	GRCh38
NC_000003.11:g.8775407G>T , CM000665.1:g.8775407G>T	GRCh37
NC_000003.10:g.8750407G>T	NCBI36
NG_008797.2:g.4912G>T , LRG_329:g.4912G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000435138.5:c.64+8738C>A	ENSP00000412333.1:n.64+8738C>A
ENST00000478513.1:n.335+8738C>A
XR_940435.1:n.330+8738C>A
XM_017006530.1:c.-283+8738C>A	XP_016862019.1:n.-283+8738C>A

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