Canonical Allele Identifier: CA635719599

Gene: SNTA1

Linked Data

• dbSNP Id: rs1349643494
• gnomAD v2: 20-32031359-GC-G
• gnomAD v4: 20-33443553-GC-G
• MyVariant Identifiers: chr20:g.32031360del (hg19) ; chr20:g.33443554del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33443558del , CM000682.2:g.33443558del	GRCh38
NC_000020.10:g.32031364del , CM000682.1:g.32031364del	GRCh37
NC_000020.9:g.31495025del	NCBI36
NG_011622.1:g.5339del , LRG_332:g.5339del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.67del MANE Select	ENSP00000217381.2:p.Ala23ProfsTer11
ENST00000217381.2:c.67del	ENSP00000217381.2:p.Ala23ProfsTer11
NM_003098.2:c.67del , LRG_332t1:c.67del	NP_003089.1:p.Ala23ProfsTer11
XM_005260517.1:c.67del	XP_005260574.1:p.Ala23ProfsTer11
XM_011529007.1:c.67del	XP_011527309.1:p.Ala23ProfsTer11
XM_011529008.1:c.67del	XP_011527310.1:p.Ala23ProfsTer11
XR_936612.1:n.300del
NM_003098.3:c.67del MANE Select	NP_003089.1:p.Ala23ProfsTer11