Canonical Allele Identifier: CA540845434

Gene: SSUH2

Linked Data

• dbSNP Id: rs1172113638
• gnomAD v2: 3-8775413-C-G
• gnomAD v3: 3-8733727-C-G
• gnomAD v4: 3-8733727-C-G
• MyVariant Identifiers: chr3:g.8775413C>G (hg19) ; chr3:g.8733727C>G (hg38)

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