Canonical Allele Identifier: CA9817229

Gene: SNTA1

Linked Data

• ClinVar Variation Id: 426680
• ClinVar RCV Id: RCV000489834 ; RCV000620309 ; RCV001346075
• dbSNP Id: rs142978180
• ExAC: 20:32026713 A / C
• gnomAD v2: 20-32026713-A-C
• gnomAD v3: 20-33438907-A-C
• gnomAD v4: 20-33438907-A-C
• MyVariant Identifiers: chr20:g.32026713A>C (hg19) ; chr20:g.33438907A>C (hg38)
• PubMed: PMID:24981977

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33438907A>C , CM000682.2:g.33438907A>C	GRCh38
NC_000020.10:g.32026713A>C , CM000682.1:g.32026713A>C	GRCh37
NC_000020.9:g.31490374A>C	NCBI36
NG_011622.1:g.9986T>G , LRG_332:g.9986T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.430T>G MANE Select	ENSP00000217381.2:p.Ser144Ala
ENST00000217381.2:c.430T>G	ENSP00000217381.2:p.Ser144Ala
NM_003098.2:c.430T>G , LRG_332t1:c.430T>G	NP_003089.1:p.Ser144Ala
XM_005260517.1:c.430T>G	XP_005260574.1:p.Ser144Ala
XM_011529007.1:c.430T>G	XP_011527309.1:p.Ser144Ala
XM_011529008.1:c.430T>G	XP_011527310.1:p.Ser144Ala
XR_936612.1:n.663T>G
XM_024451971.1:c.103T>G	XP_024307739.1:p.Ser35Ala
NM_003098.3:c.430T>G MANE Select	NP_003089.1:p.Ser144Ala