Canonical Allele Identifier: CA234118534

Gene: ST8SIA1

Linked Data

• dbSNP Id: rs74706849
• gnomAD v2: 12-22365737-T-C
• gnomAD v3: 12-22212803-T-C
• gnomAD v4: 12-22212803-T-C
• MyVariant Identifiers: chr12:g.22365737T>C (hg19) ; chr12:g.22212803T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.22212803T>C , CM000674.2:g.22212803T>C	GRCh38
NC_000012.11:g.22365737T>C , CM000674.1:g.22365737T>C	GRCh37
NC_000012.10:g.22257004T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396037.9:c.585-10765A>G MANE Select	ENSP00000379353.3:n.585-10765A>G
ENST00000261197.7:c.*67-10765A>G	ENSP00000261197.3:n.*67-10765A>G
ENST00000396037.8:c.585-10765A>G	ENSP00000379353.3:n.585-10765A>G
ENST00000508924.2:n.188-10765A>G
ENST00000540824.5:c.438-10765A>G	ENSP00000441707.1:n.438-10765A>G
ENST00000544732.5:n.151+36203A>G
ENST00000545494.5:n.306-10765A>G
ENST00000545524.5:n.249+36203A>G
NM_001304450.1:c.156-10765A>G	NP_001291379.1:n.156-10765A>G
NM_003034.3:c.585-10765A>G	NP_003025.1:n.585-10765A>G
XR_931322.1:n.1041+36203A>G
NM_001304450.2:c.156-10765A>G	NP_001291379.1:n.156-10765A>G
NM_003034.4:c.585-10765A>G MANE Select	NP_003025.1:n.585-10765A>G