Canonical Allele Identifier: CA408633516

Gene: SNTA1

Linked Data

• gnomAD v4: 20-33438948-A-G
• MyVariant Identifiers: chr20:g.32026754A>G (hg19) ; chr20:g.33438948A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33438948A>G , CM000682.2:g.33438948A>G	GRCh38
NC_000020.10:g.32026754A>G , CM000682.1:g.32026754A>G	GRCh37
NC_000020.9:g.31490415A>G	NCBI36
NG_011622.1:g.9945T>C , LRG_332:g.9945T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.389T>C MANE Select	ENSP00000217381.2:p.Phe130Ser
ENST00000217381.2:c.389T>C	ENSP00000217381.2:p.Phe130Ser
NM_003098.2:c.389T>C , LRG_332t1:c.389T>C	NP_003089.1:p.Phe130Ser
XM_005260517.1:c.389T>C	XP_005260574.1:p.Phe130Ser
XM_011529007.1:c.389T>C	XP_011527309.1:p.Phe130Ser
XM_011529008.1:c.389T>C	XP_011527310.1:p.Phe130Ser
XR_936612.1:n.622T>C
XM_024451971.1:c.62T>C	XP_024307739.1:p.Phe21Ser
NM_003098.3:c.389T>C MANE Select	NP_003089.1:p.Phe130Ser