Canonical Allele Identifier: CA313279110
Gene: SNTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 496194
ClinVar RCV Id: RCV000588163 RCV001803869 RCV002367992 RCV002530927
dbSNP Id: rs963277918
gnomAD v2: 20-32031326-C-T
gnomAD v3: 20-33443520-C-T
gnomAD v4: 20-33443520-C-T
MyVariant Identifiers: chr20:g.32031326C>T (hg19) chr20:g.33443520C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33443520C>T , CM000682.2:g.33443520C>T GRCh38
NC_000020.10:g.32031326C>T , CM000682.1:g.32031326C>T GRCh37
NC_000020.9:g.31494987C>T NCBI36
NG_011622.1:g.5373G>A , LRG_332:g.5373G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000217381.3:c.101G>A MANE Select ENSP00000217381.2:p.Ser34Asn
ENST00000217381.2:c.101G>A ENSP00000217381.2:p.Ser34Asn
NM_003098.2:c.101G>A , LRG_332t1:c.101G>A NP_003089.1:p.Ser34Asn
XM_005260517.1:c.101G>A XP_005260574.1:p.Ser34Asn
XM_011529007.1:c.101G>A XP_011527309.1:p.Ser34Asn
XM_011529008.1:c.101G>A XP_011527310.1:p.Ser34Asn
XR_936612.1:n.334G>A
NM_003098.3:c.101G>A MANE Select NP_003089.1:p.Ser34Asn
Search 100 bp 5'
Search 100 bp 3'