Canonical Allele Identifier: CA69861747
Gene: SSUH2 HGNC NCBI

Linked Data

dbSNP Id: rs556634971
gnomAD v3: 3-8733639-G-C
gnomAD v4: 3-8733639-G-C
MyVariant Identifiers: chr3:g.8775325G>C (hg19) chr3:g.8733639G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8733639G>C , CM000665.2:g.8733639G>C GRCh38
NC_000003.11:g.8775325G>C , CM000665.1:g.8775325G>C GRCh37
NC_000003.10:g.8750325G>C NCBI36
NG_008797.2:g.4830G>C , LRG_329:g.4830G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000435138.5:c.64+8820C>G ENSP00000412333.1:n.64+8820C>G
ENST00000478513.1:n.335+8820C>G
XR_940435.1:n.330+8820C>G
XM_017006530.1:c.-283+8820C>G XP_016862019.1:n.-283+8820C>G
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