Canonical Allele Identifier: CA502630

Gene: SAMD11

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.939067G>A , CM000663.2:g.939067G>A	GRCh38
NC_000001.10:g.874447G>A , CM000663.1:g.874447G>A	GRCh37
NC_000001.9:g.864310G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001385641.1:c.995G>A MANE Select	NP_001372570.1:p.Arg332His
ENST00000616016.5:c.995G>A MANE Select	ENSP00000478421.2:p.Arg332His
NM_001385640.1:c.995G>A	NP_001372569.1:p.Arg332His
NM_152486.2:c.458G>A	NP_689699.2:p.Arg153His
NM_152486.3:c.458G>A	NP_689699.2:p.Arg153His
NM_152486.4:c.458G>A	NP_689699.3:p.Arg153His
ENST00000341065.8:c.229G>A
ENST00000342066.7:c.458G>A	ENSP00000342313.3:p.Arg153His
ENST00000342066.8:c.458G>A	ENSP00000342313.3:p.Arg153His
ENST00000420190.5:c.458G>A	ENSP00000411579.1:p.Arg153His
ENST00000616016.4:c.458G>A	ENSP00000478421.1:p.Arg153His
ENST00000616125.4:c.458G>A	ENSP00000484643.1:p.Arg153His
ENST00000616125.5:c.458G>A	ENSP00000484643.1:p.Arg153His
ENST00000617307.4:c.458G>A	ENSP00000482090.1:p.Arg153His
ENST00000617307.5:c.458G>A	ENSP00000482090.2:p.Arg153His
ENST00000618181.4:c.407G>A	ENSP00000480870.1:p.Arg136His
ENST00000618181.5:c.407G>A	ENSP00000480870.1:p.Arg136His
ENST00000618323.4:c.340-2105G>A	ENSP00000480678.1:n.340-2105G>A
ENST00000618323.5:c.995G>A	ENSP00000480678.2:p.Arg332His
ENST00000618779.4:c.458G>A	ENSP00000484256.1:p.Arg153His
ENST00000618779.5:c.458G>A	ENSP00000484256.1:p.Arg153His
ENST00000620200.4:c.306-3343G>A	ENSP00000484820.1:n.306-3343G>A
ENST00000622503.4:c.458G>A	ENSP00000482138.1:p.Arg153His
ENST00000622503.5:c.458G>A	ENSP00000482138.1:p.Arg153His