Canonical Allele Identifier: CA10652475

Gene: SNTA1

Linked Data

• ClinVar Variation Id: 338212
• ClinVar RCV Id: RCV000323354 ; RCV000380288 ; RCV002057732
• dbSNP Id: rs748801869
• gnomAD v3: 20-33408901-C-G
• gnomAD v4: 20-33408901-C-G
• MyVariant Identifiers: chr20:g.31996707C>G (hg19) ; chr20:g.33408901C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33408901C>G , CM000682.2:g.33408901C>G	GRCh38
NC_000020.10:g.31996707C>G , CM000682.1:g.31996707C>G	GRCh37
NC_000020.9:g.31460368C>G	NCBI36
NG_011622.1:g.39992G>C , LRG_332:g.39992G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.1238-13G>C MANE Select	ENSP00000217381.2:n.1238-13G>C
ENST00000217381.2:c.1238-13G>C	ENSP00000217381.2:n.1238-13G>C
NM_003098.2:c.1238-13G>C , LRG_332t1:c.1238-13G>C	NP_003089.1:n.1238-13G>C
XM_005260517.1:c.1238-13G>C	XP_005260574.1:n.1238-13G>C
XM_011529007.1:c.1270-13G>C	XP_011527309.1:n.1270-13G>C
XM_011529008.1:c.1270-13G>C	XP_011527310.1:n.1270-13G>C
XR_936612.1:n.1274-13G>C
XM_024451971.1:c.911-13G>C	XP_024307739.1:n.911-13G>C
NM_003098.3:c.1238-13G>C MANE Select	NP_003089.1:n.1238-13G>C