Canonical Allele Identifier: CA235722

Gene: SNTA1

Linked Data

• ClinVar Variation Id: 190930
• ClinVar RCV Id: RCV000171113 ; RCV000618648 ; RCV001079048 ; RCV000990300 ; RCV001143394
• dbSNP Id: rs141724500
• ExAC: 20:32026703 G / T
• gnomAD v2: 20-32026703-G-T
• gnomAD v3: 20-33438897-G-T
• gnomAD v4: 20-33438897-G-T
• MyVariant Identifiers: chr20:g.32026703G>T (hg19) ; chr20:g.33438897G>T (hg38)
• PubMed: PMID:22584458 ; PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33438897G>T , CM000682.2:g.33438897G>T	GRCh38
NC_000020.10:g.32026703G>T , CM000682.1:g.32026703G>T	GRCh37
NC_000020.9:g.31490364G>T	NCBI36
NG_011622.1:g.9996C>A , LRG_332:g.9996C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.440C>A MANE Select	ENSP00000217381.2:p.Thr147Asn
ENST00000217381.2:c.440C>A	ENSP00000217381.2:p.Thr147Asn
NM_003098.2:c.440C>A , LRG_332t1:c.440C>A	NP_003089.1:p.Thr147Asn
XM_005260517.1:c.440C>A	XP_005260574.1:p.Thr147Asn
XM_011529007.1:c.440C>A	XP_011527309.1:p.Thr147Asn
XM_011529008.1:c.440C>A	XP_011527310.1:p.Thr147Asn
XR_936612.1:n.673C>A
XM_024451971.1:c.113C>A	XP_024307739.1:p.Thr38Asn
NM_003098.3:c.440C>A MANE Select	NP_003089.1:p.Thr147Asn