Canonical Allele Identifier: CA408633538
Gene: SNTA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33438958C>T , CM000682.2:g.33438958C>T GRCh38
NC_000020.10:g.32026764C>T , CM000682.1:g.32026764C>T GRCh37
NC_000020.9:g.31490425C>T NCBI36
NG_011622.1:g.9935G>A , LRG_332:g.9935G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000217381.3:c.379G>A MANE Select ENSP00000217381.2:p.Glu127Lys
ENST00000217381.2:c.379G>A ENSP00000217381.2:p.Glu127Lys
NM_003098.2:c.379G>A , LRG_332t1:c.379G>A NP_003089.1:p.Glu127Lys
XM_005260517.1:c.379G>A XP_005260574.1:p.Glu127Lys
XM_011529007.1:c.379G>A XP_011527309.1:p.Glu127Lys
XM_011529008.1:c.379G>A XP_011527310.1:p.Glu127Lys
XR_936612.1:n.612G>A
XM_024451971.1:c.52G>A XP_024307739.1:p.Glu18Lys
NM_003098.3:c.379G>A MANE Select NP_003089.1:p.Glu127Lys