Canonical Allele Identifier: CA9817268

Gene: SNTA1

Linked Data

• ClinVar Variation Id: 378629
• ClinVar RCV Id: RCV000617628 ; RCV001136817 ; RCV000862729 ; RCV001712202
• dbSNP Id: rs751651742
• ExAC: 20:32031217 C / G
• gnomAD v2: 20-32031217-C-G
• gnomAD v3: 20-33443411-C-G
• gnomAD v4: 20-33443411-C-G
• MyVariant Identifiers: chr20:g.32031217C>G (hg19) ; chr20:g.33443411C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33443411C>G , CM000682.2:g.33443411C>G	GRCh38
NC_000020.10:g.32031217C>G , CM000682.1:g.32031217C>G	GRCh37
NC_000020.9:g.31494878C>G	NCBI36
NG_011622.1:g.5482G>C , LRG_332:g.5482G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.210G>C MANE Select	ENSP00000217381.2:p.Pro70=
ENST00000217381.2:c.210G>C	ENSP00000217381.2:p.Pro70=
NM_003098.2:c.210G>C , LRG_332t1:c.210G>C	NP_003089.1:p.Pro70=
XM_005260517.1:c.210G>C	XP_005260574.1:p.Pro70=
XM_011529007.1:c.210G>C	XP_011527309.1:p.Pro70=
XM_011529008.1:c.210G>C	XP_011527310.1:p.Pro70=
XR_936612.1:n.443G>C
NM_003098.3:c.210G>C MANE Select	NP_003089.1:p.Pro70=