Canonical Allele Identifier: CA302282
Community Standard Title: NM_003098.3(SNTA1):c.1088A>C (p.Glu363Ala)
Gene: SNTA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33410284T>G , CM000682.2:g.33410284T>G GRCh38
NC_000020.10:g.31998090T>G , CM000682.1:g.31998090T>G GRCh37
NC_000020.9:g.31461751T>G NCBI36
NG_011622.1:g.38609A>C , LRG_332:g.38609A>C

Transcript Alleles

HGVS Amino-acid Change
NM_003098.3:c.1088A>C MANE Select NP_003089.1:p.Glu363Ala
ENST00000217381.3:c.1088A>C MANE Select ENSP00000217381.2:p.Glu363Ala
NM_003098.2:c.1088A>C , LRG_332t1:c.1088A>C NP_003089.1:p.Glu363Ala
ENST00000217381.2:c.1088A>C ENSP00000217381.2:p.Glu363Ala
XM_005260517.1:c.1088A>C XP_005260574.1:p.Glu363Ala
XM_011529007.1:c.1088A>C XP_011527309.1:p.Glu363Ala
XM_011529008.1:c.1088A>C XP_011527310.1:p.Glu363Ala
XM_024451971.1:c.761A>C XP_024307739.1:p.Glu254Ala
XR_936612.1:n.1274-1396A>C
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