Canonical Allele Identifier: CA911554163
Gene: SSUH2 HGNC NCBI

Linked Data

dbSNP Id: rs1258850818
gnomAD v3: 3-8733720-T-G
gnomAD v4: 3-8733720-T-G
MyVariant Identifiers: chr3:g.8775406T>G (hg19) chr3:g.8733720T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8733720T>G , CM000665.2:g.8733720T>G GRCh38
NC_000003.11:g.8775406T>G , CM000665.1:g.8775406T>G GRCh37
NC_000003.10:g.8750406T>G NCBI36
NG_008797.2:g.4911T>G , LRG_329:g.4911T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000435138.5:c.64+8739A>C ENSP00000412333.1:n.64+8739A>C
ENST00000478513.1:n.335+8739A>C
XR_940435.1:n.330+8739A>C
XM_017006530.1:c.-283+8739A>C XP_016862019.1:n.-283+8739A>C
Search 100 bp 5'
Search 100 bp 3'