Canonical Allele Identifier: CA408634616
Gene: SNTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2179883
ClinVar RCV Id: RCV002615275 RCV003294532
dbSNP Id: rs1234604785
gnomAD v3: 20-33443544-T-C
gnomAD v4: 20-33443544-T-C
MyVariant Identifiers: chr20:g.32031350T>C (hg19) chr20:g.33443544T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33443544T>C , CM000682.2:g.33443544T>C GRCh38
NC_000020.10:g.32031350T>C , CM000682.1:g.32031350T>C GRCh37
NC_000020.9:g.31495011T>C NCBI36
NG_011622.1:g.5349A>G , LRG_332:g.5349A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000217381.3:c.77A>G MANE Select ENSP00000217381.2:p.Glu26Gly
ENST00000217381.2:c.77A>G ENSP00000217381.2:p.Glu26Gly
NM_003098.2:c.77A>G , LRG_332t1:c.77A>G NP_003089.1:p.Glu26Gly
XM_005260517.1:c.77A>G XP_005260574.1:p.Glu26Gly
XM_011529007.1:c.77A>G XP_011527309.1:p.Glu26Gly
XM_011529008.1:c.77A>G XP_011527310.1:p.Glu26Gly
XR_936612.1:n.310A>G
NM_003098.3:c.77A>G MANE Select NP_003089.1:p.Glu26Gly
Search 100 bp 5'
Search 100 bp 3'