Canonical Allele Identifier: CA408630152

Gene: SNTA1

Linked Data

• gnomAD v4: 20-33408741-C-T
• MyVariant Identifiers: chr20:g.31996547C>T (hg19) ; chr20:g.33408741C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33408741C>T , CM000682.2:g.33408741C>T	GRCh38
NC_000020.10:g.31996547C>T , CM000682.1:g.31996547C>T	GRCh37
NC_000020.9:g.31460208C>T	NCBI36
NG_011622.1:g.40152G>A , LRG_332:g.40152G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.1385G>A MANE Select	ENSP00000217381.2:p.Ser462Asn
ENST00000217381.2:c.1385G>A	ENSP00000217381.2:p.Ser462Asn
NM_003098.2:c.1385G>A , LRG_332t1:c.1385G>A	NP_003089.1:p.Ser462Asn
XM_005260517.1:c.1385G>A	XP_005260574.1:p.Ser462Asn
XM_011529007.1:c.1417G>A	XP_011527309.1:p.Val473Ile
XM_011529008.1:c.1417G>A	XP_011527310.1:p.Val473Ile
XR_936612.1:n.1421G>A
XM_024451971.1:c.1058G>A	XP_024307739.1:p.Ser353Asn
NM_003098.3:c.1385G>A MANE Select	NP_003089.1:p.Ser462Asn