Canonical Allele Identifier: CA2664269788
Gene: SSUH2 HGNC NCBI

Linked Data

gnomAD v4: 3-8733653-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8733653G>T , CM000665.2:g.8733653G>T GRCh38
NC_000003.11:g.8775339G>T , CM000665.1:g.8775339G>T GRCh37
NC_000003.10:g.8750339G>T NCBI36
NG_008797.2:g.4844G>T , LRG_329:g.4844G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000435138.5:c.64+8806C>A ENSP00000412333.1:n.64+8806C>A
ENST00000478513.1:n.335+8806C>A
XR_940435.1:n.330+8806C>A
XM_017006530.1:c.-283+8806C>A XP_016862019.1:n.-283+8806C>A