Canonical Allele Identifier: CA293638

Gene: SNTA1

Linked Data

• ClinVar Variation Id: 139223
• ClinVar RCV Id: RCV003298145
• dbSNP Id: rs146134721
• ExAC: 20:31996555 G / A
• gnomAD v2: 20-31996555-G-A
• gnomAD v3: 20-33408749-G-A
• gnomAD v4: 20-33408749-G-A
• MyVariant Identifiers: chr20:g.31996555G>A (hg19) ; chr20:g.33408749G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33408749G>A , CM000682.2:g.33408749G>A	GRCh38
NC_000020.10:g.31996555G>A , CM000682.1:g.31996555G>A	GRCh37
NC_000020.9:g.31460216G>A	NCBI36
NG_011622.1:g.40144C>T , LRG_332:g.40144C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000217381.3:c.1377C>T MANE Select	ENSP00000217381.2:p.Asp459=
ENST00000217381.2:c.1377C>T	ENSP00000217381.2:p.Asp459=
NM_003098.2:c.1377C>T , LRG_332t1:c.1377C>T	NP_003089.1:p.Asp459=
XM_005260517.1:c.1377C>T	XP_005260574.1:p.Asp459=
XM_011529007.1:c.1409C>T	XP_011527309.1:p.Thr470Met
XM_011529008.1:c.1409C>T	XP_011527310.1:p.Thr470Met
XR_936612.1:n.1413C>T
XM_024451971.1:c.1050C>T	XP_024307739.1:p.Asp350=
NM_003098.3:c.1377C>T MANE Select	NP_003089.1:p.Asp459=