Canonical Allele Identifier: CA69861787
Gene: SSUH2 HGNC NCBI

Linked Data

dbSNP Id: rs540461543
gnomAD v2: 3-8775455-A-G
gnomAD v3: 3-8733769-A-G
gnomAD v4: 3-8733769-A-G
MyVariant Identifiers: chr3:g.8775455A>G (hg19) chr3:g.8733769A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8733769A>G , CM000665.2:g.8733769A>G GRCh38
NC_000003.11:g.8775455A>G , CM000665.1:g.8775455A>G GRCh37
NC_000003.10:g.8750455A>G NCBI36
NG_008797.2:g.4960A>G , LRG_329:g.4960A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000435138.5:c.64+8690T>C ENSP00000412333.1:n.64+8690T>C
ENST00000478513.1:n.335+8690T>C
XR_940435.1:n.330+8690T>C
XM_017006530.1:c.-283+8690T>C XP_016862019.1:n.-283+8690T>C
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