Canonical Allele Identifier: CA408630174

Gene: SNTA1

Linked Data

• MyVariant Identifiers: chr20:g.31996557C>G (hg19) ; chr20:g.33408751C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33408751C>G , CM000682.2:g.33408751C>G	GRCh38
NC_000020.10:g.31996557C>G , CM000682.1:g.31996557C>G	GRCh37
NC_000020.9:g.31460218C>G	NCBI36
NG_011622.1:g.40142G>C , LRG_332:g.40142G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.1375G>C MANE Select	ENSP00000217381.2:p.Asp459His
ENST00000217381.2:c.1375G>C	ENSP00000217381.2:p.Asp459His
NM_003098.2:c.1375G>C , LRG_332t1:c.1375G>C	NP_003089.1:p.Asp459His
XM_005260517.1:c.1375G>C	XP_005260574.1:p.Asp459His
XM_011529007.1:c.1407G>C	XP_011527309.1:p.Met469Ile
XM_011529008.1:c.1407G>C	XP_011527310.1:p.Met469Ile
XR_936612.1:n.1411G>C
XM_024451971.1:c.1048G>C	XP_024307739.1:p.Asp350His
NM_003098.3:c.1375G>C MANE Select	NP_003089.1:p.Asp459His