Canonical Allele Identifier: CA6363799

Gene: ST14

Linked Data

• ClinVar Variation Id: 452396
• ClinVar RCV Id: RCV000520395
• dbSNP Id: rs772021263
• ExAC: 11:130064061 C / A
• gnomAD v2: 11-130064061-C-A
• gnomAD v3: 11-130194166-C-A
• gnomAD v4: 11-130194166-C-A
• MyVariant Identifiers: chr11:g.130064061C>A (hg19) ; chr11:g.130194166C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.130194166C>A , CM000673.2:g.130194166C>A	GRCh38
NC_000011.9:g.130064061C>A , CM000673.1:g.130064061C>A	GRCh37
NC_000011.8:g.129569271C>A	NCBI36
NG_012132.1:g.39380C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278742.6:c.893C>A MANE Select	ENSP00000278742.5:p.Pro298His
ENST00000278742.5:c.893C>A	ENSP00000278742.5:p.Pro298His
ENST00000524718.5:n.367C>A
ENST00000530376.1:n.490C>A
ENST00000530532.5:n.867C>A
NM_021978.3:c.893C>A	NP_068813.1:p.Pro298His
NM_021978.4:c.893C>A MANE Select	NP_068813.1:p.Pro298His