Canonical Allele Identifier: CA408633309
Gene: SNTA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33438850C>G , CM000682.2:g.33438850C>G GRCh38
NC_000020.10:g.32026656C>G , CM000682.1:g.32026656C>G GRCh37
NC_000020.9:g.31490317C>G NCBI36
NG_011622.1:g.10043G>C , LRG_332:g.10043G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000217381.3:c.487G>C MANE Select ENSP00000217381.2:p.Val163Leu
ENST00000217381.2:c.487G>C ENSP00000217381.2:p.Val163Leu
NM_003098.2:c.487G>C , LRG_332t1:c.487G>C NP_003089.1:p.Val163Leu
XM_005260517.1:c.487G>C XP_005260574.1:p.Val163Leu
XM_011529007.1:c.487G>C XP_011527309.1:p.Val163Leu
XM_011529008.1:c.487G>C XP_011527310.1:p.Val163Leu
XR_936612.1:n.720G>C
XM_024451971.1:c.160G>C XP_024307739.1:p.Val54Leu
NM_003098.3:c.487G>C MANE Select NP_003089.1:p.Val163Leu