Canonical Allele Identifier: CA510252238

Gene: SNTA1

Linked Data

• ClinVar Variation Id: 1667433
• ClinVar RCV Id: RCV002188979
• dbSNP Id: rs2146808171
• gnomAD v4: 20-33438947-A-G
• MyVariant Identifiers: chr20:g.32026753A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33438947A>G , CM000682.2:g.33438947A>G	GRCh38
NC_000020.10:g.32026753A>G , CM000682.1:g.32026753A>G	GRCh37
NC_000020.9:g.31490414A>G	NCBI36
NG_011622.1:g.9946T>C , LRG_332:g.9946T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.390T>C MANE Select	ENSP00000217381.2:p.Phe130=
ENST00000217381.2:c.390T>C	ENSP00000217381.2:p.Phe130=
NM_003098.2:c.390T>C , LRG_332t1:c.390T>C	NP_003089.1:p.Phe130=
XM_005260517.1:c.390T>C	XP_005260574.1:p.Phe130=
XM_011529007.1:c.390T>C	XP_011527309.1:p.Phe130=
XM_011529008.1:c.390T>C	XP_011527310.1:p.Phe130=
XR_936612.1:n.623T>C
XM_024451971.1:c.63T>C	XP_024307739.1:p.Phe21=
NM_003098.3:c.390T>C MANE Select	NP_003089.1:p.Phe130=