Canonical Allele Identifier: CA116624

Gene: ST14

Linked Data

• ClinVar Variation Id: 4038
• ClinVar RCV Id: RCV000004253
• dbSNP Id: rs137852931
• gnomAD v3: 11-130209734-G-A
• gnomAD v4: 11-130209734-G-A
• MyVariant Identifiers: chr11:g.130079629G>A (hg19) ; chr11:g.130209734G>A (hg38)
• PubMed: PMID:17273967

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.130209734G>A , CM000673.2:g.130209734G>A	GRCh38
NC_000011.9:g.130079629G>A , CM000673.1:g.130079629G>A	GRCh37
NC_000011.8:g.129584839G>A	NCBI36
NG_012132.1:g.54948G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000278742.6:c.2479G>A MANE Select	ENSP00000278742.5:p.Gly827Arg
ENST00000278742.5:c.2479G>A	ENSP00000278742.5:p.Gly827Arg
NM_021978.3:c.2479G>A	NP_068813.1:p.Gly827Arg
NM_021978.4:c.2479G>A MANE Select	NP_068813.1:p.Gly827Arg