Canonical Allele Identifier: CA10653087

Gene: SNTA1

Linked Data

• ClinVar Variation Id: 338227
• ClinVar RCV Id: RCV000283064 ; RCV000321693 ; RCV000833373
• dbSNP Id: rs57684257
• gnomAD v2: 20-32031681-C-G
• gnomAD v3: 20-33443875-C-G
• gnomAD v4: 20-33443875-C-G
• MyVariant Identifiers: chr20:g.32031681C>G (hg19) ; chr20:g.33443875C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33443875C>G , CM000682.2:g.33443875C>G	GRCh38
NC_000020.10:g.32031681C>G , CM000682.1:g.32031681C>G	GRCh37
NC_000020.9:g.31495342C>G	NCBI36
NG_011622.1:g.5018G>C , LRG_332:g.5018G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000217381.2:c.-255G>C	ENSP00000217381.2:n.-255G>C
NM_003098.2:c.-255G>C , LRG_332t1:c.-255G>C	NP_003089.1:n.-255G>C