Canonical Allele Identifier: CA151132

Gene: ST14

Linked Data

• ClinVar Variation Id: 126419
• ClinVar RCV Id: RCV000114359
• dbSNP Id: rs587777262
• MyVariant Identifiers: chr11:g.130078580G>A (hg19) ; chr11:g.130208685G>A (hg38)
• PubMed: PMID:9450882 ; PMID:18843291

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.130208685G>A , CM000673.2:g.130208685G>A	GRCh38
NC_000011.9:g.130078580G>A , CM000673.1:g.130078580G>A	GRCh37
NC_000011.8:g.129583790G>A	NCBI36
NG_012132.1:g.53899G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278742.6:c.2269+1G>A MANE Select	ENSP00000278742.5:n.2269+1G>A
ENST00000278742.5:c.2269+1G>A	ENSP00000278742.5:n.2269+1G>A
NM_021978.3:c.2269+1G>A	NP_068813.1:n.2269+1G>A
NM_021978.4:c.2269+1G>A MANE Select	NP_068813.1:n.2269+1G>A