Canonical Allele Identifier: CA9816971

Gene: SNTA1

Linked Data

• ClinVar Variation Id: 449724
• ClinVar RCV Id: RCV000520393 ; RCV001349981
• dbSNP Id: rs188835994
• ExAC: 20:31996544 A / C
• gnomAD v2: 20-31996544-A-C
• gnomAD v3: 20-33408738-A-C
• gnomAD v4: 20-33408738-A-C
• MyVariant Identifiers: chr20:g.31996544A>C (hg19) ; chr20:g.33408738A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33408738A>C , CM000682.2:g.33408738A>C	GRCh38
NC_000020.10:g.31996544A>C , CM000682.1:g.31996544A>C	GRCh37
NC_000020.9:g.31460205A>C	NCBI36
NG_011622.1:g.40155T>G , LRG_332:g.40155T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000217381.3:c.1388T>G MANE Select	ENSP00000217381.2:p.Leu463Arg
ENST00000217381.2:c.1388T>G	ENSP00000217381.2:p.Leu463Arg
NM_003098.2:c.1388T>G , LRG_332t1:c.1388T>G	NP_003089.1:p.Leu463Arg
XM_005260517.1:c.1388T>G	XP_005260574.1:p.Leu463Arg
XM_011529007.1:c.1420T>G	XP_011527309.1:p.Ser474Ala
XM_011529008.1:c.1420T>G	XP_011527310.1:p.Ser474Ala
XR_936612.1:n.1424T>G
XM_024451971.1:c.1061T>G	XP_024307739.1:p.Leu354Arg
NM_003098.3:c.1388T>G MANE Select	NP_003089.1:p.Leu463Arg