Canonical Allele Identifier: CA302237
Gene: SNTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 190902
ClinVar RCV Id: RCV002307430
dbSNP Id: rs786205840
gnomAD v4: 20-33443599-G-C
MyVariant Identifiers: chr20:g.32031405G>C (hg19) chr20:g.33443599G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33443599G>C , CM000682.2:g.33443599G>C GRCh38
NC_000020.10:g.32031405G>C , CM000682.1:g.32031405G>C GRCh37
NC_000020.9:g.31495066G>C NCBI36
NG_011622.1:g.5294C>G , LRG_332:g.5294C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000217381.3:c.22C>G MANE Select ENSP00000217381.2:p.Pro8Ala
ENST00000217381.2:c.22C>G ENSP00000217381.2:p.Pro8Ala
NM_003098.2:c.22C>G , LRG_332t1:c.22C>G NP_003089.1:p.Pro8Ala
XM_005260517.1:c.22C>G XP_005260574.1:p.Pro8Ala
XM_011529007.1:c.22C>G XP_011527309.1:p.Pro8Ala
XM_011529008.1:c.22C>G XP_011527310.1:p.Pro8Ala
XR_936612.1:n.255C>G
NM_003098.3:c.22C>G MANE Select NP_003089.1:p.Pro8Ala
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