Canonical Allele Identifier: CA235719

Gene: SNTA1

Linked Data

• ClinVar Variation Id: 190914
• ClinVar RCV Id: RCV000171097 ; RCV000185526 ; RCV000206185 ; RCV000266318 ; RCV000678949 ; RCV002408740
• dbSNP Id: rs150576530
• ExAC: 20:32000503 C / A
• gnomAD v2: 20-32000503-C-A
• gnomAD v3: 20-33412697-C-A
• gnomAD v4: 20-33412697-C-A
• MyVariant Identifiers: chr20:g.32000503C>A (hg19) ; chr20:g.33412697C>A (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33412697C>A , CM000682.2:g.33412697C>A	GRCh38
NC_000020.10:g.32000503C>A , CM000682.1:g.32000503C>A	GRCh37
NC_000020.9:g.31464164C>A	NCBI36
NG_011622.1:g.36196G>T , LRG_332:g.36196G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.787G>T MANE Select	ENSP00000217381.2:p.Ala263Ser
ENST00000217381.2:c.787G>T	ENSP00000217381.2:p.Ala263Ser
NM_003098.2:c.787G>T , LRG_332t1:c.787G>T	NP_003089.1:p.Ala263Ser
XM_005260517.1:c.787G>T	XP_005260574.1:p.Ala263Ser
XM_011529007.1:c.787G>T	XP_011527309.1:p.Ala263Ser
XM_011529008.1:c.787G>T	XP_011527310.1:p.Ala263Ser
XR_936612.1:n.1020G>T
XM_024451971.1:c.460G>T	XP_024307739.1:p.Ala154Ser
NM_003098.3:c.787G>T MANE Select	NP_003089.1:p.Ala263Ser