Canonical Allele Identifier: CA408630158

Gene: SNTA1

Linked Data

• dbSNP Id: rs1299230902
• gnomAD v2: 20-31996550-G-C
• gnomAD v4: 20-33408744-G-C
• MyVariant Identifiers: chr20:g.31996550G>C (hg19) ; chr20:g.33408744G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33408744G>C , CM000682.2:g.33408744G>C	GRCh38
NC_000020.10:g.31996550G>C , CM000682.1:g.31996550G>C	GRCh37
NC_000020.9:g.31460211G>C	NCBI36
NG_011622.1:g.40149C>G , LRG_332:g.40149C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000217381.3:c.1382C>G MANE Select	ENSP00000217381.2:p.Ala461Gly
ENST00000217381.2:c.1382C>G	ENSP00000217381.2:p.Ala461Gly
NM_003098.2:c.1382C>G , LRG_332t1:c.1382C>G	NP_003089.1:p.Ala461Gly
XM_005260517.1:c.1382C>G	XP_005260574.1:p.Ala461Gly
XM_011529007.1:c.1414C>G	XP_011527309.1:p.Pro472Ala
XM_011529008.1:c.1414C>G	XP_011527310.1:p.Pro472Ala
XR_936612.1:n.1418C>G
XM_024451971.1:c.1055C>G	XP_024307739.1:p.Ala352Gly
NM_003098.3:c.1382C>G MANE Select	NP_003089.1:p.Ala461Gly