Canonical Allele Identifier: CA510470725
Gene: SNTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1122106
ClinVar RCV Id: RCV001452636
dbSNP Id: rs2146815323
gnomAD v4: 20-33443587-G-A
MyVariant Identifiers: chr20:g.32031393G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33443587G>A , CM000682.2:g.33443587G>A GRCh38
NC_000020.10:g.32031393G>A , CM000682.1:g.32031393G>A GRCh37
NC_000020.9:g.31495054G>A NCBI36
NG_011622.1:g.5306C>T , LRG_332:g.5306C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000217381.3:c.34C>T MANE Select ENSP00000217381.2:p.Leu12=
ENST00000217381.2:c.34C>T ENSP00000217381.2:p.Leu12=
NM_003098.2:c.34C>T , LRG_332t1:c.34C>T NP_003089.1:p.Leu12=
XM_005260517.1:c.34C>T XP_005260574.1:p.Leu12=
XM_011529007.1:c.34C>T XP_011527309.1:p.Leu12=
XM_011529008.1:c.34C>T XP_011527310.1:p.Leu12=
XR_936612.1:n.267C>T
NM_003098.3:c.34C>T MANE Select NP_003089.1:p.Leu12=
Search 100 bp 5'
Search 100 bp 3'