Canonical Allele Identifier: CA408634583

Gene: SNTA1

Linked Data

• gnomAD v4: 20-33443537-C-A
• MyVariant Identifiers: chr20:g.32031343C>A (hg19) ; chr20:g.33443537C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33443537C>A , CM000682.2:g.33443537C>A	GRCh38
NC_000020.10:g.32031343C>A , CM000682.1:g.32031343C>A	GRCh37
NC_000020.9:g.31495004C>A	NCBI36
NG_011622.1:g.5356G>T , LRG_332:g.5356G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.84G>T MANE Select	ENSP00000217381.2:p.Trp28Cys
ENST00000217381.2:c.84G>T	ENSP00000217381.2:p.Trp28Cys
NM_003098.2:c.84G>T , LRG_332t1:c.84G>T	NP_003089.1:p.Trp28Cys
XM_005260517.1:c.84G>T	XP_005260574.1:p.Trp28Cys
XM_011529007.1:c.84G>T	XP_011527309.1:p.Trp28Cys
XM_011529008.1:c.84G>T	XP_011527310.1:p.Trp28Cys
XR_936612.1:n.317G>T
NM_003098.3:c.84G>T MANE Select	NP_003089.1:p.Trp28Cys