Canonical Allele Identifier: CA408630055
Gene: SNTA1 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.33408600C>T
GRCh37 chr20:g.31996406C>T
gnomAD v2:
20:31996406 C / T
gnomAD v4:
chr20-33408600-C-T
Joint Max Group AF 0.00000429 (NFE)
Exomes Max Group AF 0.00000455 (NFE)
ClinVar RCV:
RCV003296664
ClinVar Variation:
2562671
dbSNP:
1234489874
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33408600C>T , CM000682.2:g.33408600C>T GRCh38
NC_000020.10:g.31996406C>T , CM000682.1:g.31996406C>T GRCh37
NC_000020.9:g.31460067C>T NCBI36
NG_011622.1:g.40293G>A , LRG_332:g.40293G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000217381.3:c.1426-1G>A MANE Select ENSP00000217381.2:n.1426-1G>A
ENST00000217381.2:c.1426-1G>A ENSP00000217381.2:n.1426-1G>A
NM_003098.2:c.1426-1G>A , LRG_332t1:c.1426-1G>A NP_003089.1:n.1426-1G>A
XM_005260517.1:c.1426-4G>A XP_005260574.1:n.1426-4G>A
XM_011529007.1:c.1458-1G>A XP_011527309.1:n.1458-1G>A
XM_011529008.1:c.1458-4G>A XP_011527310.1:n.1458-4G>A
XR_936612.1:n.1462-1G>A
XM_024451971.1:c.1099-1G>A XP_024307739.1:n.1099-1G>A
NM_003098.3:c.1426-1G>A MANE Select NP_003089.1:n.1426-1G>A
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