Canonical Allele Identifier: CA9817200

Gene: SNTA1

Linked Data

• ClinVar Variation Id: 338218
• ClinVar RCV Id: RCV000274218 ; RCV000331608 ; RCV000620625 ; RCV001861164
• dbSNP Id: rs775580363
• ExAC: 20:32005712 C / T
• gnomAD v2: 20-32005712-C-T
• gnomAD v3: 20-33417906-C-T
• gnomAD v4: 20-33417906-C-T
• MyVariant Identifiers: chr20:g.32005712C>T (hg19) ; chr20:g.33417906C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33417906C>T , CM000682.2:g.33417906C>T	GRCh38
NC_000020.10:g.32005712C>T , CM000682.1:g.32005712C>T	GRCh37
NC_000020.9:g.31469373C>T	NCBI36
NG_011622.1:g.30987G>A , LRG_332:g.30987G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000217381.3:c.514G>A MANE Select	ENSP00000217381.2:p.Val172Ile
ENST00000217381.2:c.514G>A	ENSP00000217381.2:p.Val172Ile
NM_003098.2:c.514G>A , LRG_332t1:c.514G>A	NP_003089.1:p.Val172Ile
XM_005260517.1:c.514G>A	XP_005260574.1:p.Val172Ile
XM_011529007.1:c.514G>A	XP_011527309.1:p.Val172Ile
XM_011529008.1:c.514G>A	XP_011527310.1:p.Val172Ile
XR_936612.1:n.747G>A
XM_024451971.1:c.187G>A	XP_024307739.1:p.Val63Ile
NM_003098.3:c.514G>A MANE Select	NP_003089.1:p.Val172Ile