Canonical Allele Identifier: CA69861604
Gene: SSUH2 HGNC NCBI

Linked Data

dbSNP Id: rs114275509
gnomAD v2: 3-8775036-T-A
gnomAD v3: 3-8733350-T-A
gnomAD v4: 3-8733350-T-A
MyVariant Identifiers: chr3:g.8775036T>A (hg19) chr3:g.8733350T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8733350T>A , CM000665.2:g.8733350T>A GRCh38
NC_000003.11:g.8775036T>A , CM000665.1:g.8775036T>A GRCh37
NC_000003.10:g.8750036T>A NCBI36
NG_008797.2:g.4541T>A , LRG_329:g.4541T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000435138.5:c.64+9109A>T ENSP00000412333.1:n.64+9109A>T
ENST00000478513.1:n.335+9109A>T
XR_940435.1:n.330+9109A>T
XM_017006530.1:c.-283+9109A>T XP_016862019.1:n.-283+9109A>T
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