Canonical Allele Identifier: CA11466760
Gene: SSUH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 668647
ClinVar RCV Id: RCV000827588
dbSNP Id: rs6793441
gnomAD v2: 3-8775223-C-A
gnomAD v3: 3-8733537-C-A
gnomAD v4: 3-8733537-C-A
MyVariant Identifiers: chr3:g.8775223C>A (hg19) chr3:g.8733537C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8733537C>A , CM000665.2:g.8733537C>A GRCh38
NC_000003.11:g.8775223C>A , CM000665.1:g.8775223C>A GRCh37
NC_000003.10:g.8750223C>A NCBI36
NG_008797.2:g.4728C>A , LRG_329:g.4728C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000435138.5:c.64+8922G>T ENSP00000412333.1:n.64+8922G>T
ENST00000478513.1:n.335+8922G>T
XR_940435.1:n.330+8922G>T
XM_017006530.1:c.-283+8922G>T XP_016862019.1:n.-283+8922G>T
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