Canonical Allele Identifier: CA911554185
Gene: SSUH2 HGNC NCBI

Linked Data

dbSNP Id: rs1244049057
gnomAD v3: 3-8733738-C-T
gnomAD v4: 3-8733738-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8733738C>T , CM000665.2:g.8733738C>T GRCh38
NC_000003.11:g.8775424C>T , CM000665.1:g.8775424C>T GRCh37
NC_000003.10:g.8750424C>T NCBI36
NG_008797.2:g.4929C>T , LRG_329:g.4929C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000435138.5:c.64+8721G>A ENSP00000412333.1:n.64+8721G>A
ENST00000478513.1:n.335+8721G>A
XR_940435.1:n.330+8721G>A
XM_017006530.1:c.-283+8721G>A XP_016862019.1:n.-283+8721G>A