Canonical Allele Identifier: CA2664269837
Gene: SSUH2 HGNC NCBI

Linked Data

gnomAD v4: 3-8733701-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8733701G>A , CM000665.2:g.8733701G>A GRCh38
NC_000003.11:g.8775387G>A , CM000665.1:g.8775387G>A GRCh37
NC_000003.10:g.8750387G>A NCBI36
NG_008797.2:g.4892G>A , LRG_329:g.4892G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000435138.5:c.64+8758C>T ENSP00000412333.1:n.64+8758C>T
ENST00000478513.1:n.335+8758C>T
XR_940435.1:n.330+8758C>T
XM_017006530.1:c.-283+8758C>T XP_016862019.1:n.-283+8758C>T