Canonical Allele Identifier: CA9817232

Gene: SNTA1

Linked Data

• dbSNP Id: rs768194552
• ExAC: 20:32026724 C / T
• gnomAD v2: 20-32026724-C-T
• gnomAD v4: 20-33438918-C-T
• MyVariant Identifiers: chr20:g.32026724C>T (hg19) ; chr20:g.33438918C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33438918C>T , CM000682.2:g.33438918C>T	GRCh38
NC_000020.10:g.32026724C>T , CM000682.1:g.32026724C>T	GRCh37
NC_000020.9:g.31490385C>T	NCBI36
NG_011622.1:g.9975G>A , LRG_332:g.9975G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.419G>A MANE Select	ENSP00000217381.2:p.Gly140Glu
ENST00000217381.2:c.419G>A	ENSP00000217381.2:p.Gly140Glu
NM_003098.2:c.419G>A , LRG_332t1:c.419G>A	NP_003089.1:p.Gly140Glu
XM_005260517.1:c.419G>A	XP_005260574.1:p.Gly140Glu
XM_011529007.1:c.419G>A	XP_011527309.1:p.Gly140Glu
XM_011529008.1:c.419G>A	XP_011527310.1:p.Gly140Glu
XR_936612.1:n.652G>A
XM_024451971.1:c.92G>A	XP_024307739.1:p.Gly31Glu
NM_003098.3:c.419G>A MANE Select	NP_003089.1:p.Gly140Glu