Canonical Allele Identifier: CA5035846

Gene: SIGMAR1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34635784C>T , CM000671.2:g.34635784C>T	GRCh38
NC_000009.11:g.34635781C>T , CM000671.1:g.34635781C>T	GRCh37
NC_000009.10:g.34625781C>T	NCBI36
NG_029945.2:g.6988G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005866.4:c.520G>A MANE Select	NP_005857.1:p.Gly174Ser
ENST00000277010.9:c.520G>A MANE Select	ENSP00000277010.4:p.Gly174Ser
NM_001282205.1:c.446-144G>A	NP_001269134.1:n.446-144G>A
NM_001282205.2:c.446-144G>A	NP_001269134.1:n.446-144G>A
NM_001282206.1:c.220G>A	NP_001269135.1:p.Gly74Ser
NM_001282206.2:c.220G>A	NP_001269135.1:p.Gly74Ser
NM_001282207.1:c.460G>A	NP_001269136.1:p.Gly154Ser
NM_001282207.2:c.460G>A	NP_001269136.1:p.Gly154Ser
NM_001282208.1:c.*63G>A	NP_001269137.1:n.*63G>A
NM_001282208.2:c.*63G>A	NP_001269137.1:n.*63G>A
NM_001282209.1:c.*47G>A	NP_001269138.1:n.*47G>A
NM_001282209.2:c.*47G>A	NP_001269138.1:n.*47G>A
NM_005866.3:c.520G>A	NP_005857.1:p.Gly174Ser
NM_147157.2:c.427G>A	NP_671513.1:p.Gly143Ser
NM_147157.3:c.427G>A	NP_671513.1:p.Gly143Ser
NR_104108.1:n.536G>A
NR_104108.2:n.497G>A
ENST00000277010.8:c.520G>A	ENSP00000277010.4:p.Gly174Ser
ENST00000353468.4:c.*152G>A	ENSP00000434453.1:n.*152G>A
ENST00000378892.5:c.253G>A	ENSP00000368170.1:p.Gly85Ser
ENST00000461426.1:n.652G>A
ENST00000477726.1:c.427G>A	ENSP00000420022.1:p.Gly143Ser
ENST00000497006.2:n.797G>A
ENST00000679597.1:c.460G>A	ENSP00000505634.1:p.Gly154Ser
ENST00000680104.1:c.*690G>A	ENSP00000505949.1:n.*690G>A
ENST00000680244.1:c.446-144G>A	ENSP00000505305.1:n.446-144G>A
ENST00000680277.1:c.*63G>A	ENSP00000505742.1:n.*63G>A
ENST00000680730.1:c.*47G>A	ENSP00000505588.1:n.*47G>A
ENST00000681409.1:n.1907G>A
XM_011517674.1:c.496G>A	XP_011515976.1:p.Gly166Ser