Canonical Allele Identifier: CA2664269856
Gene: SSUH2 HGNC NCBI

Linked Data

gnomAD v4: 3-8733715-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8733715A>G , CM000665.2:g.8733715A>G GRCh38
NC_000003.11:g.8775401A>G , CM000665.1:g.8775401A>G GRCh37
NC_000003.10:g.8750401A>G NCBI36
NG_008797.2:g.4906A>G , LRG_329:g.4906A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000435138.5:c.64+8744T>C ENSP00000412333.1:n.64+8744T>C
ENST00000478513.1:n.335+8744T>C
XR_940435.1:n.330+8744T>C
XM_017006530.1:c.-283+8744T>C XP_016862019.1:n.-283+8744T>C