Canonical Allele Identifier: CA408630298

Gene: SNTA1

Linked Data

• ClinVar Variation Id: 3223110
• ClinVar RCV Id: RCV004508465
• MyVariant Identifiers: chr20:g.31996617C>G (hg19) ; chr20:g.33408811C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33408811C>G , CM000682.2:g.33408811C>G	GRCh38
NC_000020.10:g.31996617C>G , CM000682.1:g.31996617C>G	GRCh37
NC_000020.9:g.31460278C>G	NCBI36
NG_011622.1:g.40082G>C , LRG_332:g.40082G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.1315G>C MANE Select	ENSP00000217381.2:p.Gly439Arg
ENST00000217381.2:c.1315G>C	ENSP00000217381.2:p.Gly439Arg
NM_003098.2:c.1315G>C , LRG_332t1:c.1315G>C	NP_003089.1:p.Gly439Arg
XM_005260517.1:c.1315G>C	XP_005260574.1:p.Gly439Arg
XM_011529007.1:c.1347G>C	XP_011527309.1:p.Gln449His
XM_011529008.1:c.1347G>C	XP_011527310.1:p.Gln449His
XR_936612.1:n.1351G>C
XM_024451971.1:c.988G>C	XP_024307739.1:p.Gly330Arg
NM_003098.3:c.1315G>C MANE Select	NP_003089.1:p.Gly439Arg