Canonical Allele Identifier: CA9817081

Gene: SNTA1

Linked Data

• ClinVar Variation Id: 412220
• ClinVar RCV Id: RCV000476847 ; RCV004022899
• dbSNP Id: rs149126874
• ExAC: 20:32000135 C / T
• gnomAD v2: 20-32000135-C-T
• gnomAD v3: 20-33412329-C-T
• gnomAD v4: 20-33412329-C-T
• MyVariant Identifiers: chr20:g.32000135C>T (hg19) ; chr20:g.33412329C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33412329C>T , CM000682.2:g.33412329C>T	GRCh38
NC_000020.10:g.32000135C>T , CM000682.1:g.32000135C>T	GRCh37
NC_000020.9:g.31463796C>T	NCBI36
NG_011622.1:g.36564G>A , LRG_332:g.36564G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.1007G>A MANE Select	ENSP00000217381.2:p.Arg336Gln
ENST00000217381.2:c.1007G>A	ENSP00000217381.2:p.Arg336Gln
NM_003098.2:c.1007G>A , LRG_332t1:c.1007G>A	NP_003089.1:p.Arg336Gln
XM_005260517.1:c.1007G>A	XP_005260574.1:p.Arg336Gln
XM_011529007.1:c.1007G>A	XP_011527309.1:p.Arg336Gln
XM_011529008.1:c.1007G>A	XP_011527310.1:p.Arg336Gln
XR_936612.1:n.1240G>A
XM_024451971.1:c.680G>A	XP_024307739.1:p.Arg227Gln
NM_003098.3:c.1007G>A MANE Select	NP_003089.1:p.Arg336Gln