Canonical Allele Identifier: CA408633380

Gene: SNTA1

Linked Data

• ClinVar Variation Id: 1741423
• ClinVar RCV Id: RCV002330341
• MyVariant Identifiers: chr20:g.32026689C>T (hg19) ; chr20:g.33438883C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33438883C>T , CM000682.2:g.33438883C>T	GRCh38
NC_000020.10:g.32026689C>T , CM000682.1:g.32026689C>T	GRCh37
NC_000020.9:g.31490350C>T	NCBI36
NG_011622.1:g.10010G>A , LRG_332:g.10010G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.454G>A MANE Select	ENSP00000217381.2:p.Val152Met
ENST00000217381.2:c.454G>A	ENSP00000217381.2:p.Val152Met
NM_003098.2:c.454G>A , LRG_332t1:c.454G>A	NP_003089.1:p.Val152Met
XM_005260517.1:c.454G>A	XP_005260574.1:p.Val152Met
XM_011529007.1:c.454G>A	XP_011527309.1:p.Val152Met
XM_011529008.1:c.454G>A	XP_011527310.1:p.Val152Met
XR_936612.1:n.687G>A
XM_024451971.1:c.127G>A	XP_024307739.1:p.Val43Met
NM_003098.3:c.454G>A MANE Select	NP_003089.1:p.Val152Met