Canonical Allele Identifier: CA9817236

Gene: SNTA1

Linked Data

• ClinVar Variation Id: 1731712
• ClinVar RCV Id: RCV002457275 ; RCV003775634
• dbSNP Id: rs370893672
• ExAC: 20:32026797 T / C
• gnomAD v2: 20-32026797-T-C
• gnomAD v3: 20-33438991-T-C
• gnomAD v4: 20-33438991-T-C
• MyVariant Identifiers: chr20:g.32026797T>C (hg19) ; chr20:g.33438991T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33438991T>C , CM000682.2:g.33438991T>C	GRCh38
NC_000020.10:g.32026797T>C , CM000682.1:g.32026797T>C	GRCh37
NC_000020.9:g.31490458T>C	NCBI36
NG_011622.1:g.9902A>G , LRG_332:g.9902A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.346A>G MANE Select	ENSP00000217381.2:p.Lys116Glu
ENST00000217381.2:c.346A>G	ENSP00000217381.2:p.Lys116Glu
NM_003098.2:c.346A>G , LRG_332t1:c.346A>G	NP_003089.1:p.Lys116Glu
XM_005260517.1:c.346A>G	XP_005260574.1:p.Lys116Glu
XM_011529007.1:c.346A>G	XP_011527309.1:p.Lys116Glu
XM_011529008.1:c.346A>G	XP_011527310.1:p.Lys116Glu
XR_936612.1:n.579A>G
XM_024451971.1:c.19A>G	XP_024307739.1:p.Lys7Glu
NM_003098.3:c.346A>G MANE Select	NP_003089.1:p.Lys116Glu