Canonical Allele Identifier: CA408630169

Gene: SNTA1

Linked Data

• MyVariant Identifiers: chr20:g.31996555G>T (hg19) ; chr20:g.33408749G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33408749G>T , CM000682.2:g.33408749G>T	GRCh38
NC_000020.10:g.31996555G>T , CM000682.1:g.31996555G>T	GRCh37
NC_000020.9:g.31460216G>T	NCBI36
NG_011622.1:g.40144C>A , LRG_332:g.40144C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.1377C>A MANE Select	ENSP00000217381.2:p.Asp459Glu
ENST00000217381.2:c.1377C>A	ENSP00000217381.2:p.Asp459Glu
NM_003098.2:c.1377C>A , LRG_332t1:c.1377C>A	NP_003089.1:p.Asp459Glu
XM_005260517.1:c.1377C>A	XP_005260574.1:p.Asp459Glu
XM_011529007.1:c.1409C>A	XP_011527309.1:p.Thr470Lys
XM_011529008.1:c.1409C>A	XP_011527310.1:p.Thr470Lys
XR_936612.1:n.1413C>A
XM_024451971.1:c.1050C>A	XP_024307739.1:p.Asp350Glu
NM_003098.3:c.1377C>A MANE Select	NP_003089.1:p.Asp459Glu