Canonical Allele Identifier: CA302252

Gene: SNTA1

Linked Data

• ClinVar Variation Id: 190907
• ClinVar RCV Id: RCV000656979 ; RCV000540961 ; RCV000781872 ; RCV002492708 ; RCV002433740
• dbSNP Id: rs766925398
• ExAC: 20:32031140 C / G
• gnomAD v2: 20-32031140-C-G
• gnomAD v3: 20-33443334-C-G
• gnomAD v4: 20-33443334-C-G
• COSMIC: COSM1740678
• MyVariant Identifiers: chr20:g.32031140C>G (hg19) ; chr20:g.33443334C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33443334C>G , CM000682.2:g.33443334C>G	GRCh38
NC_000020.10:g.32031140C>G , CM000682.1:g.32031140C>G	GRCh37
NC_000020.9:g.31494801C>G	NCBI36
NG_011622.1:g.5559G>C , LRG_332:g.5559G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.287G>C MANE Select	ENSP00000217381.2:p.Gly96Ala
ENST00000217381.2:c.287G>C	ENSP00000217381.2:p.Gly96Ala
NM_003098.2:c.287G>C , LRG_332t1:c.287G>C	NP_003089.1:p.Gly96Ala
XM_005260517.1:c.287G>C	XP_005260574.1:p.Gly96Ala
XM_011529007.1:c.287G>C	XP_011527309.1:p.Gly96Ala
XM_011529008.1:c.287G>C	XP_011527310.1:p.Gly96Ala
XR_936612.1:n.520G>C
NM_003098.3:c.287G>C MANE Select	NP_003089.1:p.Gly96Ala