Canonical Allele Identifier: CA408630302

Gene: SNTA1

Linked Data

• gnomAD v4: 20-33408814-G-T
• MyVariant Identifiers: chr20:g.31996620G>T (hg19) ; chr20:g.33408814G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33408814G>T , CM000682.2:g.33408814G>T	GRCh38
NC_000020.10:g.31996620G>T , CM000682.1:g.31996620G>T	GRCh37
NC_000020.9:g.31460281G>T	NCBI36
NG_011622.1:g.40079C>A , LRG_332:g.40079C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.1312C>A MANE Select	ENSP00000217381.2:p.Pro438Thr
ENST00000217381.2:c.1312C>A	ENSP00000217381.2:p.Pro438Thr
NM_003098.2:c.1312C>A , LRG_332t1:c.1312C>A	NP_003089.1:p.Pro438Thr
XM_005260517.1:c.1312C>A	XP_005260574.1:p.Pro438Thr
XM_011529007.1:c.1344C>A	XP_011527309.1:p.Ser448Arg
XM_011529008.1:c.1344C>A	XP_011527310.1:p.Ser448Arg
XR_936612.1:n.1348C>A
XM_024451971.1:c.985C>A	XP_024307739.1:p.Pro329Thr
NM_003098.3:c.1312C>A MANE Select	NP_003089.1:p.Pro438Thr