Canonical Allele Identifier: CA540845434
Gene: SSUH2 HGNC NCBI

Linked Data

dbSNP Id: rs1172113638
gnomAD v2: 3-8775413-C-G
gnomAD v3: 3-8733727-C-G
gnomAD v4: 3-8733727-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8733727C>G , CM000665.2:g.8733727C>G GRCh38
NC_000003.11:g.8775413C>G , CM000665.1:g.8775413C>G GRCh37
NC_000003.10:g.8750413C>G NCBI36
NG_008797.2:g.4918C>G , LRG_329:g.4918C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000435138.5:c.64+8732G>C ENSP00000412333.1:n.64+8732G>C
ENST00000478513.1:n.335+8732G>C
XR_940435.1:n.330+8732G>C
XM_017006530.1:c.-283+8732G>C XP_016862019.1:n.-283+8732G>C