Canonical Allele Identifier: CA337788218
Community Standard Title: NM_001385641.1(SAMD11):c.548G>A (p.Gly183Glu)
Gene: SAMD11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.925952G>A , CM000663.2:g.925952G>A GRCh38
NC_000001.10:g.861332G>A , CM000663.1:g.861332G>A GRCh37
NC_000001.9:g.851195G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001385641.1:c.548G>A MANE Select NP_001372570.1:p.Gly183Glu
ENST00000616016.5:c.548G>A MANE Select ENSP00000478421.2:p.Gly183Glu
NM_001385640.1:c.548G>A NP_001372569.1:p.Gly183Glu
NM_152486.2:c.11G>A NP_689699.2:p.Gly4Glu
NM_152486.3:c.11G>A NP_689699.2:p.Gly4Glu
NM_152486.4:c.11G>A NP_689699.3:p.Gly4Glu
ENST00000342066.7:c.11G>A ENSP00000342313.3:p.Gly4Glu
ENST00000342066.8:c.11G>A ENSP00000342313.3:p.Gly4Glu
ENST00000420190.5:c.11G>A ENSP00000411579.1:p.Gly4Glu
ENST00000437963.5:c.11G>A ENSP00000393181.1:p.Gly4Glu
ENST00000616016.4:c.11G>A ENSP00000478421.1:p.Gly4Glu
ENST00000616125.4:c.11G>A ENSP00000484643.1:p.Gly4Glu
ENST00000616125.5:c.11G>A ENSP00000484643.1:p.Gly4Glu
ENST00000617307.4:c.11G>A ENSP00000482090.1:p.Gly4Glu
ENST00000617307.5:c.11G>A ENSP00000482090.2:p.Gly4Glu
ENST00000618181.4:c.11G>A ENSP00000480870.1:p.Gly4Glu
ENST00000618181.5:c.11G>A ENSP00000480870.1:p.Gly4Glu
ENST00000618323.4:c.11G>A ENSP00000480678.1:p.Gly4Glu
ENST00000618323.5:c.548G>A ENSP00000480678.2:p.Gly183Glu
ENST00000618779.4:c.11G>A ENSP00000484256.1:p.Gly4Glu
ENST00000618779.5:c.11G>A ENSP00000484256.1:p.Gly4Glu
ENST00000620200.4:c.11G>A ENSP00000484820.1:p.Gly4Glu
ENST00000622503.4:c.11G>A ENSP00000482138.1:p.Gly4Glu
ENST00000622503.5:c.11G>A ENSP00000482138.1:p.Gly4Glu