Canonical Allele Identifier: CA373275376

Gene: SIGMAR1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34637422T>A , CM000671.2:g.34637422T>A	GRCh38
NC_000009.11:g.34637419T>A , CM000671.1:g.34637419T>A	GRCh37
NC_000009.10:g.34627419T>A	NCBI36
NG_029945.2:g.5350A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005866.4:c.152-2A>T MANE Select	NP_005857.1:n.152-2A>T
ENST00000277010.9:c.152-2A>T MANE Select	ENSP00000277010.4:n.152-2A>T
NM_001282205.1:c.152-2A>T	NP_001269134.1:n.152-2A>T
NM_001282205.2:c.152-2A>T	NP_001269134.1:n.152-2A>T
NM_001282206.1:c.-102-2A>T	NP_001269135.1:n.-102-2A>T
NM_001282206.2:c.-102-2A>T	NP_001269135.1:n.-102-2A>T
NM_001282207.1:c.92-2A>T	NP_001269136.1:n.92-2A>T
NM_001282207.2:c.92-2A>T	NP_001269136.1:n.92-2A>T
NM_001282208.1:c.152-2A>T	NP_001269137.1:n.152-2A>T
NM_001282208.2:c.152-2A>T	NP_001269137.1:n.152-2A>T
NM_001282209.1:c.152-2A>T	NP_001269138.1:n.152-2A>T
NM_001282209.2:c.152-2A>T	NP_001269138.1:n.152-2A>T
NM_005866.3:c.152-2A>T	NP_005857.1:n.152-2A>T
NM_147157.2:c.152-2A>T	NP_671513.1:n.152-2A>T
NM_147157.3:c.152-2A>T	NP_671513.1:n.152-2A>T
NR_104108.1:n.281-2A>T
NR_104108.2:n.242-2A>T
ENST00000277010.8:c.152-2A>T	ENSP00000277010.4:n.152-2A>T
ENST00000353468.4:c.152-2A>T	ENSP00000434453.1:n.152-2A>T
ENST00000378892.5:c.-118A>T	ENSP00000368170.1:n.-118A>T
ENST00000461426.1:n.375A>T
ENST00000477726.1:c.152-2A>T	ENSP00000420022.1:n.152-2A>T
ENST00000497006.1:n.138-2A>T
ENST00000497006.2:n.299-2A>T
ENST00000679597.1:c.92-2A>T	ENSP00000505634.1:n.92-2A>T
ENST00000680104.1:c.152-2A>T	ENSP00000505949.1:n.152-2A>T
ENST00000680244.1:c.152-2A>T	ENSP00000505305.1:n.152-2A>T
ENST00000680277.1:c.152-2A>T	ENSP00000505742.1:n.152-2A>T
ENST00000680730.1:c.152-2A>T	ENSP00000505588.1:n.152-2A>T
ENST00000681409.1:n.271-2A>T
XM_011517674.1:c.152-2A>T	XP_011515976.1:n.152-2A>T