Canonical Allele Identifier: CA302282

Gene: SNTA1

Linked Data

• ClinVar Variation Id: 190918
• ClinVar RCV Id: RCV000171101 ; RCV000243691 ; RCV000656217 ; RCV000796538 ; RCV001138961 ; RCV003155101
• dbSNP Id: rs147964932
• ExAC: 20:31998090 T / G
• gnomAD v2: 20-31998090-T-G
• gnomAD v3: 20-33410284-T-G
• gnomAD v4: 20-33410284-T-G
• MyVariant Identifiers: chr20:g.31998090T>G (hg19) ; chr20:g.33410284T>G (hg38)
• PubMed: PMID:23631430

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33410284T>G , CM000682.2:g.33410284T>G	GRCh38
NC_000020.10:g.31998090T>G , CM000682.1:g.31998090T>G	GRCh37
NC_000020.9:g.31461751T>G	NCBI36
NG_011622.1:g.38609A>C , LRG_332:g.38609A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.1088A>C MANE Select	ENSP00000217381.2:p.Glu363Ala
ENST00000217381.2:c.1088A>C	ENSP00000217381.2:p.Glu363Ala
NM_003098.2:c.1088A>C , LRG_332t1:c.1088A>C	NP_003089.1:p.Glu363Ala
XM_005260517.1:c.1088A>C	XP_005260574.1:p.Glu363Ala
XM_011529007.1:c.1088A>C	XP_011527309.1:p.Glu363Ala
XM_011529008.1:c.1088A>C	XP_011527310.1:p.Glu363Ala
XR_936612.1:n.1274-1396A>C
XM_024451971.1:c.761A>C	XP_024307739.1:p.Glu254Ala
NM_003098.3:c.1088A>C MANE Select	NP_003089.1:p.Glu363Ala