Canonical Allele Identifier: CA302321
Community Standard Title: NM_003098.3(SNTA1):c.40G>A (p.Glu14Lys)
Gene: SNTA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33443581C>T , CM000682.2:g.33443581C>T GRCh38
NC_000020.10:g.32031387C>T , CM000682.1:g.32031387C>T GRCh37
NC_000020.9:g.31495048C>T NCBI36
NG_011622.1:g.5312G>A , LRG_332:g.5312G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003098.3:c.40G>A MANE Select NP_003089.1:p.Glu14Lys
ENST00000217381.3:c.40G>A MANE Select ENSP00000217381.2:p.Glu14Lys
NM_003098.2:c.40G>A , LRG_332t1:c.40G>A NP_003089.1:p.Glu14Lys
ENST00000217381.2:c.40G>A ENSP00000217381.2:p.Glu14Lys
XM_005260517.1:c.40G>A XP_005260574.1:p.Glu14Lys
XM_011529007.1:c.40G>A XP_011527309.1:p.Glu14Lys
XM_011529008.1:c.40G>A XP_011527310.1:p.Glu14Lys
XR_936612.1:n.273G>A
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