Canonical Allele Identifier: CA254410

Gene: SNTA1

Linked Data

• ClinVar Variation Id: 8476
• ClinVar RCV Id: RCV000008997 ; RCV000414434 ; RCV000852541 ; RCV002326671 ; RCV002512925
• dbSNP Id: rs121434500
• ExAC: 20:31998009 G / A
• gnomAD v2: 20-31998009-G-A
• gnomAD v3: 20-33410203-G-A
• gnomAD v4: 20-33410203-G-A
• MyVariant Identifiers: chr20:g.31998009G>A (hg19) ; chr20:g.33410203G>A (hg38)
• PubMed: PMID:18591664

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33410203G>A , CM000682.2:g.33410203G>A	GRCh38
NC_000020.10:g.31998009G>A , CM000682.1:g.31998009G>A	GRCh37
NC_000020.9:g.31461670G>A	NCBI36
NG_011622.1:g.38690C>T , LRG_332:g.38690C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.1169C>T MANE Select	ENSP00000217381.2:p.Ala390Val
ENST00000217381.2:c.1169C>T	ENSP00000217381.2:p.Ala390Val
NM_003098.2:c.1169C>T , LRG_332t1:c.1169C>T	NP_003089.1:p.Ala390Val
XM_005260517.1:c.1169C>T	XP_005260574.1:p.Ala390Val
XM_011529007.1:c.1169C>T	XP_011527309.1:p.Ala390Val
XM_011529008.1:c.1169C>T	XP_011527310.1:p.Ala390Val
XR_936612.1:n.1274-1315C>T
XM_024451971.1:c.842C>T	XP_024307739.1:p.Ala281Val
NM_003098.3:c.1169C>T MANE Select	NP_003089.1:p.Ala390Val