Canonical Allele Identifier: CA373274345

Gene: SIGMAR1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34637086C>T , CM000671.2:g.34637086C>T	GRCh38
NC_000009.11:g.34637083C>T , CM000671.1:g.34637083C>T	GRCh37
NC_000009.10:g.34627083C>T	NCBI36
NG_029945.2:g.5686G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005866.4:c.356G>A MANE Select	NP_005857.1:p.Arg119His
ENST00000277010.9:c.356G>A MANE Select	ENSP00000277010.4:p.Arg119His
NM_001282205.1:c.356G>A	NP_001269134.1:p.Arg119His
NM_001282205.2:c.356G>A	NP_001269134.1:p.Arg119His
NM_001282206.1:c.56G>A	NP_001269135.1:p.Arg19His
NM_001282206.2:c.56G>A	NP_001269135.1:p.Arg19His
NM_001282207.1:c.296G>A	NP_001269136.1:p.Arg99His
NM_001282207.2:c.296G>A	NP_001269136.1:p.Arg99His
NM_001282208.1:c.379G>A	NP_001269137.1:p.Ala127Thr
NM_001282208.2:c.379G>A	NP_001269137.1:p.Ala127Thr
NM_001282209.1:c.305+181G>A	NP_001269138.1:n.305+181G>A
NM_001282209.2:c.305+181G>A	NP_001269138.1:n.305+181G>A
NM_005866.3:c.356G>A	NP_005857.1:p.Arg119His
NM_147157.2:c.352+134G>A	NP_671513.1:n.352+134G>A
NM_147157.3:c.352+134G>A	NP_671513.1:n.352+134G>A
NR_104108.1:n.372G>A
NR_104108.2:n.333G>A
ENST00000277010.8:c.356G>A	ENSP00000277010.4:p.Arg119His
ENST00000353468.4:c.309G>A	ENSP00000434453.1:p.Ala103=
ENST00000378892.5:c.89G>A	ENSP00000368170.1:p.Arg30His
ENST00000461426.1:n.577+134G>A
ENST00000477726.1:c.352+134G>A	ENSP00000420022.1:n.352+134G>A
ENST00000478146.1:n.150G>A
ENST00000497006.1:n.472G>A
ENST00000497006.2:n.633G>A
ENST00000679597.1:c.296G>A	ENSP00000505634.1:p.Arg99His
ENST00000680104.1:c.356G>A	ENSP00000505949.1:p.Arg119His
ENST00000680244.1:c.356G>A	ENSP00000505305.1:p.Arg119His
ENST00000680277.1:c.379G>A	ENSP00000505742.1:p.Ala127Thr
ENST00000680730.1:c.305+181G>A	ENSP00000505588.1:n.305+181G>A
ENST00000681409.1:n.605G>A
XM_011517674.1:c.332G>A	XP_011515976.1:p.Arg111His