Canonical Allele Identifier: CA510252189

Gene: SNTA1

Linked Data

• ClinVar Variation Id: 1741549
• ClinVar RCV Id: RCV002342116 ; RCV003933753
• dbSNP Id: rs1990508951
• gnomAD v4: 20-33438881-C-T
• MyVariant Identifiers: chr20:g.32026687C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33438881C>T , CM000682.2:g.33438881C>T	GRCh38
NC_000020.10:g.32026687C>T , CM000682.1:g.32026687C>T	GRCh37
NC_000020.9:g.31490348C>T	NCBI36
NG_011622.1:g.10012G>A , LRG_332:g.10012G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.456G>A MANE Select	ENSP00000217381.2:p.Val152=
ENST00000217381.2:c.456G>A	ENSP00000217381.2:p.Val152=
NM_003098.2:c.456G>A , LRG_332t1:c.456G>A	NP_003089.1:p.Val152=
XM_005260517.1:c.456G>A	XP_005260574.1:p.Val152=
XM_011529007.1:c.456G>A	XP_011527309.1:p.Val152=
XM_011529008.1:c.456G>A	XP_011527310.1:p.Val152=
XR_936612.1:n.689G>A
XM_024451971.1:c.129G>A	XP_024307739.1:p.Val43=
NM_003098.3:c.456G>A MANE Select	NP_003089.1:p.Val152=