Canonical Allele Identifier: CA313279242
Gene: SNTA1 HGNC NCBI

Linked Data

dbSNP Id: rs544567559
gnomAD v2: 20-32031516-G-T
gnomAD v3: 20-33443710-G-T
gnomAD v4: 20-33443710-G-T
MyVariant Identifiers: chr20:g.32031516G>T (hg19) chr20:g.33443710G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33443710G>T , CM000682.2:g.33443710G>T GRCh38
NC_000020.10:g.32031516G>T , CM000682.1:g.32031516G>T GRCh37
NC_000020.9:g.31495177G>T NCBI36
NG_011622.1:g.5183C>A , LRG_332:g.5183C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000217381.3:c.-90C>A MANE Select ENSP00000217381.2:n.-90C>A
ENST00000217381.2:c.-90C>A ENSP00000217381.2:n.-90C>A
NM_003098.2:c.-90C>A , LRG_332t1:c.-90C>A NP_003089.1:n.-90C>A
XM_005260517.1:c.-90C>A XP_005260574.1:n.-90C>A
XM_011529007.1:c.-90C>A XP_011527309.1:n.-90C>A
XM_011529008.1:c.-90C>A XP_011527310.1:n.-90C>A
XR_936612.1:n.144C>A
NM_003098.3:c.-90C>A MANE Select NP_003089.1:n.-90C>A
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