Canonical Allele Identifier: CA302264

Gene: SNTA1

Linked Data

• ClinVar Variation Id: 190911
• ClinVar RCV Id: RCV000171094 ; RCV000780741 ; RCV000558137 ; RCV002362873 ; RCV003975245
• dbSNP Id: rs34479952
• ExAC: 20:32005549 C / T
• gnomAD v2: 20-32005549-C-T
• gnomAD v3: 20-33417743-C-T
• gnomAD v4: 20-33417743-C-T
• MyVariant Identifiers: chr20:g.32005549C>T (hg19) ; chr20:g.33417743C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33417743C>T , CM000682.2:g.33417743C>T	GRCh38
NC_000020.10:g.32005549C>T , CM000682.1:g.32005549C>T	GRCh37
NC_000020.9:g.31469210C>T	NCBI36
NG_011622.1:g.31150G>A , LRG_332:g.31150G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.677G>A MANE Select	ENSP00000217381.2:p.Cys226Tyr
ENST00000217381.2:c.677G>A	ENSP00000217381.2:p.Cys226Tyr
NM_003098.2:c.677G>A , LRG_332t1:c.677G>A	NP_003089.1:p.Cys226Tyr
XM_005260517.1:c.677G>A	XP_005260574.1:p.Cys226Tyr
XM_011529007.1:c.677G>A	XP_011527309.1:p.Cys226Tyr
XM_011529008.1:c.677G>A	XP_011527310.1:p.Cys226Tyr
XR_936612.1:n.910G>A
XM_024451971.1:c.350G>A	XP_024307739.1:p.Cys117Tyr
NM_003098.3:c.677G>A MANE Select	NP_003089.1:p.Cys226Tyr