Canonical Allele Identifier: CA313275662

Gene: SNTA1

Linked Data

• dbSNP Id: rs938086269
• gnomAD v2: 20-32026744-A-G
• gnomAD v3: 20-33438938-A-G
• gnomAD v4: 20-33438938-A-G
• MyVariant Identifiers: chr20:g.32026744A>G (hg19) ; chr20:g.33438938A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33438938A>G , CM000682.2:g.33438938A>G	GRCh38
NC_000020.10:g.32026744A>G , CM000682.1:g.32026744A>G	GRCh37
NC_000020.9:g.31490405A>G	NCBI36
NG_011622.1:g.9955T>C , LRG_332:g.9955T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.399T>C MANE Select	ENSP00000217381.2:p.Asp133=
ENST00000217381.2:c.399T>C	ENSP00000217381.2:p.Asp133=
NM_003098.2:c.399T>C , LRG_332t1:c.399T>C	NP_003089.1:p.Asp133=
XM_005260517.1:c.399T>C	XP_005260574.1:p.Asp133=
XM_011529007.1:c.399T>C	XP_011527309.1:p.Asp133=
XM_011529008.1:c.399T>C	XP_011527310.1:p.Asp133=
XR_936612.1:n.632T>C
XM_024451971.1:c.72T>C	XP_024307739.1:p.Asp24=
NM_003098.3:c.399T>C MANE Select	NP_003089.1:p.Asp133=