Canonical Allele Identifier: CA215178
Gene: SSUH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 31726
ClinVar RCV Id: RCV000024411
dbSNP Id: rs918317
gnomAD v2: 3-8775441-C-T
gnomAD v3: 3-8733755-C-T
gnomAD v4: 3-8733755-C-T
MyVariant Identifiers: chr3:g.8775441C>T (hg19) chr3:g.8733755C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8733755C>T , CM000665.2:g.8733755C>T GRCh38
NC_000003.11:g.8775441C>T , CM000665.1:g.8775441C>T GRCh37
NC_000003.10:g.8750441C>T NCBI36
NG_008797.2:g.4946C>T , LRG_329:g.4946C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000435138.5:c.64+8704G>A ENSP00000412333.1:n.64+8704G>A
ENST00000478513.1:n.335+8704G>A
XR_940435.1:n.330+8704G>A
XM_017006530.1:c.-283+8704G>A XP_016862019.1:n.-283+8704G>A
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