Canonical Allele Identifier: CA302321

Gene: SNTA1

Linked Data

• ClinVar Variation Id: 190932
• ClinVar RCV Id: RCV000171115 ; RCV000246049 ; RCV000458749 ; RCV001804901 ; RCV002485082
• dbSNP Id: rs786205846
• gnomAD v2: 20-32031387-C-T
• gnomAD v3: 20-33443581-C-T
• gnomAD v4: 20-33443581-C-T
• MyVariant Identifiers: chr20:g.32031387C>T (hg19) ; chr20:g.33443581C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33443581C>T , CM000682.2:g.33443581C>T	GRCh38
NC_000020.10:g.32031387C>T , CM000682.1:g.32031387C>T	GRCh37
NC_000020.9:g.31495048C>T	NCBI36
NG_011622.1:g.5312G>A , LRG_332:g.5312G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.40G>A MANE Select	ENSP00000217381.2:p.Glu14Lys
ENST00000217381.2:c.40G>A	ENSP00000217381.2:p.Glu14Lys
NM_003098.2:c.40G>A , LRG_332t1:c.40G>A	NP_003089.1:p.Glu14Lys
XM_005260517.1:c.40G>A	XP_005260574.1:p.Glu14Lys
XM_011529007.1:c.40G>A	XP_011527309.1:p.Glu14Lys
XM_011529008.1:c.40G>A	XP_011527310.1:p.Glu14Lys
XR_936612.1:n.273G>A
NM_003098.3:c.40G>A MANE Select	NP_003089.1:p.Glu14Lys