Canonical Allele Identifier: CA408631123

Gene: SNTA1

Linked Data

• dbSNP Id: rs138164106
• gnomAD v4: 20-33412321-G-C
• MyVariant Identifiers: chr20:g.32000127G>C (hg19) ; chr20:g.33412321G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33412321G>C , CM000682.2:g.33412321G>C	GRCh38
NC_000020.10:g.32000127G>C , CM000682.1:g.32000127G>C	GRCh37
NC_000020.9:g.31463788G>C	NCBI36
NG_011622.1:g.36572C>G , LRG_332:g.36572C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.1015C>G MANE Select	ENSP00000217381.2:p.Arg339Gly
ENST00000217381.2:c.1015C>G	ENSP00000217381.2:p.Arg339Gly
NM_003098.2:c.1015C>G , LRG_332t1:c.1015C>G	NP_003089.1:p.Arg339Gly
XM_005260517.1:c.1015C>G	XP_005260574.1:p.Arg339Gly
XM_011529007.1:c.1015C>G	XP_011527309.1:p.Arg339Gly
XM_011529008.1:c.1015C>G	XP_011527310.1:p.Arg339Gly
XR_936612.1:n.1248C>G
XM_024451971.1:c.688C>G	XP_024307739.1:p.Arg230Gly
NM_003098.3:c.1015C>G MANE Select	NP_003089.1:p.Arg339Gly