Canonical Allele Identifier: CA337797667
Community Standard Title: NM_001385641.1(SAMD11):c.882C>A (p.His294Gln)
Gene: SAMD11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.935811C>A , CM000663.2:g.935811C>A GRCh38
NC_000001.10:g.871191C>A , CM000663.1:g.871191C>A GRCh37
NC_000001.9:g.861054C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001385641.1:c.882C>A MANE Select NP_001372570.1:p.His294Gln
ENST00000616016.5:c.882C>A MANE Select ENSP00000478421.2:p.His294Gln
NM_001385640.1:c.882C>A NP_001372569.1:p.His294Gln
NM_152486.2:c.345C>A NP_689699.2:p.His115Gln
NM_152486.3:c.345C>A NP_689699.2:p.His115Gln
NM_152486.4:c.345C>A NP_689699.3:p.His115Gln
ENST00000341065.8:c.116C>A
ENST00000342066.7:c.345C>A ENSP00000342313.3:p.His115Gln
ENST00000342066.8:c.345C>A ENSP00000342313.3:p.His115Gln
ENST00000420190.5:c.345C>A ENSP00000411579.1:p.His115Gln
ENST00000616016.4:c.345C>A ENSP00000478421.1:p.His115Gln
ENST00000616125.4:c.345C>A ENSP00000484643.1:p.His115Gln
ENST00000616125.5:c.345C>A ENSP00000484643.1:p.His115Gln
ENST00000617307.4:c.345C>A ENSP00000482090.1:p.His115Gln
ENST00000617307.5:c.345C>A ENSP00000482090.2:p.His115Gln
ENST00000618181.4:c.294C>A ENSP00000480870.1:p.His98Gln
ENST00000618181.5:c.294C>A ENSP00000480870.1:p.His98Gln
ENST00000618323.4:c.339+6C>A ENSP00000480678.1:n.339+6C>A
ENST00000618323.5:c.882C>A ENSP00000480678.2:p.His294Gln
ENST00000618779.4:c.345C>A ENSP00000484256.1:p.His115Gln
ENST00000618779.5:c.345C>A ENSP00000484256.1:p.His115Gln
ENST00000620200.4:c.305+4722C>A ENSP00000484820.1:n.305+4722C>A
ENST00000622503.4:c.345C>A ENSP00000482138.1:p.His115Gln
ENST00000622503.5:c.345C>A ENSP00000482138.1:p.His115Gln