Canonical Allele Identifier: CA302240

Gene: SNTA1

Linked Data

• ClinVar Variation Id: 190903
• ClinVar RCV Id: RCV000171086 ; RCV000342871 ; RCV000285552 ; RCV001094618 ; RCV003165349
• dbSNP Id: rs786205841
• gnomAD v2: 20-32031299-C-T
• gnomAD v3: 20-33443493-C-T
• gnomAD v4: 20-33443493-C-T
• MyVariant Identifiers: chr20:g.32031299C>T (hg19) ; chr20:g.33443493C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33443493C>T , CM000682.2:g.33443493C>T	GRCh38
NC_000020.10:g.32031299C>T , CM000682.1:g.32031299C>T	GRCh37
NC_000020.9:g.31494960C>T	NCBI36
NG_011622.1:g.5400G>A , LRG_332:g.5400G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.128G>A MANE Select	ENSP00000217381.2:p.Ser43Asn
ENST00000217381.2:c.128G>A	ENSP00000217381.2:p.Ser43Asn
NM_003098.2:c.128G>A , LRG_332t1:c.128G>A	NP_003089.1:p.Ser43Asn
XM_005260517.1:c.128G>A	XP_005260574.1:p.Ser43Asn
XM_011529007.1:c.128G>A	XP_011527309.1:p.Ser43Asn
XM_011529008.1:c.128G>A	XP_011527310.1:p.Ser43Asn
XR_936612.1:n.361G>A
NM_003098.3:c.128G>A MANE Select	NP_003089.1:p.Ser43Asn