Canonical Allele Identifier: CA1344396198
Gene: SSUH2 HGNC NCBI

Linked Data

dbSNP Id: rs1707644947
gnomAD v4: 3-8733736-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8733736G>A , CM000665.2:g.8733736G>A GRCh38
NC_000003.11:g.8775422G>A , CM000665.1:g.8775422G>A GRCh37
NC_000003.10:g.8750422G>A NCBI36
NG_008797.2:g.4927G>A , LRG_329:g.4927G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000435138.5:c.64+8723C>T ENSP00000412333.1:n.64+8723C>T
ENST00000478513.1:n.335+8723C>T
XR_940435.1:n.330+8723C>T
XM_017006530.1:c.-283+8723C>T XP_016862019.1:n.-283+8723C>T
Search 100 bp 5'
Search 100 bp 3'