Canonical Allele Identifier: CA9817230

Gene: SNTA1

Linked Data

• dbSNP Id: rs762351550
• ExAC: 20:32026718 T / C
• gnomAD v2: 20-32026718-T-C
• gnomAD v4: 20-33438912-T-C
• MyVariant Identifiers: chr20:g.32026718T>C (hg19) ; chr20:g.33438912T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33438912T>C , CM000682.2:g.33438912T>C	GRCh38
NC_000020.10:g.32026718T>C , CM000682.1:g.32026718T>C	GRCh37
NC_000020.9:g.31490379T>C	NCBI36
NG_011622.1:g.9981A>G , LRG_332:g.9981A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.425A>G MANE Select	ENSP00000217381.2:p.Asp142Gly
ENST00000217381.2:c.425A>G	ENSP00000217381.2:p.Asp142Gly
NM_003098.2:c.425A>G , LRG_332t1:c.425A>G	NP_003089.1:p.Asp142Gly
XM_005260517.1:c.425A>G	XP_005260574.1:p.Asp142Gly
XM_011529007.1:c.425A>G	XP_011527309.1:p.Asp142Gly
XM_011529008.1:c.425A>G	XP_011527310.1:p.Asp142Gly
XR_936612.1:n.658A>G
XM_024451971.1:c.98A>G	XP_024307739.1:p.Asp33Gly
NM_003098.3:c.425A>G MANE Select	NP_003089.1:p.Asp142Gly