Canonical Allele Identifier: CA408629913

Gene: SNTA1

Linked Data

• MyVariant Identifiers: chr20:g.31996341T>A (hg19) ; chr20:g.33408535T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33408535T>A , CM000682.2:g.33408535T>A	GRCh38
NC_000020.10:g.31996341T>A , CM000682.1:g.31996341T>A	GRCh37
NC_000020.9:g.31460002T>A	NCBI36
NG_011622.1:g.40358A>T , LRG_332:g.40358A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000217381.3:c.1490A>T MANE Select	ENSP00000217381.2:p.Lys497Ile
ENST00000217381.2:c.1490A>T	ENSP00000217381.2:p.Lys497Ile
NM_003098.2:c.1490A>T , LRG_332t1:c.1490A>T	NP_003089.1:p.Lys497Ile
XM_005260517.1:c.1487A>T	XP_005260574.1:p.Lys496Ile
XM_011529007.1:c.*31A>T	XP_011527309.1:n.*31A>T
XM_011529008.1:c.*31A>T	XP_011527310.1:n.*31A>T
XR_936612.1:n.1526A>T
XM_024451971.1:c.1163A>T	XP_024307739.1:p.Lys388Ile
NM_003098.3:c.1490A>T MANE Select	NP_003089.1:p.Lys497Ile