Canonical Allele Identifier: CA9816923
Gene: SNTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 338210
ClinVar RCV Id: RCV000349505 RCV000395634
dbSNP Id: rs565582070
ExAC: 20:31996307 C / T
gnomAD v2: 20-31996307-C-T
gnomAD v3: 20-33408501-C-T
gnomAD v4: 20-33408501-C-T
MyVariant Identifiers: chr20:g.31996307C>T (hg19) chr20:g.33408501C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33408501C>T , CM000682.2:g.33408501C>T GRCh38
NC_000020.10:g.31996307C>T , CM000682.1:g.31996307C>T GRCh37
NC_000020.9:g.31459968C>T NCBI36
NG_011622.1:g.40392G>A , LRG_332:g.40392G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000217381.3:c.*6G>A MANE Select ENSP00000217381.2:n.*6G>A
ENST00000217381.2:c.*6G>A ENSP00000217381.2:n.*6G>A
NM_003098.2:c.*6G>A , LRG_332t1:c.*6G>A NP_003089.1:n.*6G>A
XM_005260517.1:c.*6G>A XP_005260574.1:n.*6G>A
XM_011529007.1:c.*65G>A XP_011527309.1:n.*65G>A
XM_011529008.1:c.*65G>A XP_011527310.1:n.*65G>A
XR_936612.1:n.1560G>A
XM_024451971.1:c.*6G>A XP_024307739.1:n.*6G>A
NM_003098.3:c.*6G>A MANE Select NP_003089.1:n.*6G>A
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