Canonical Allele Identifier: CA5149240

Gene: TRMO

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97904896C>T , CM000671.2:g.97904896C>T	GRCh38
NC_000009.11:g.100667178C>T , CM000671.1:g.100667178C>T	GRCh37
NC_000009.10:g.99706999C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_016481.5:c.1163G>A MANE Select	NP_057565.3:p.Arg388His
ENST00000375119.8:c.1163G>A MANE Select	ENSP00000364260.3:p.Arg388His
NM_001330725.1:c.725G>A	NP_001317654.1:p.Arg242His
NM_001330725.2:c.725G>A	NP_001317654.1:p.Arg242His
NM_001371657.1:c.1163G>A	NP_001358586.1:p.Arg388His
NM_001371658.1:c.1067-4100G>A	NP_001358587.1:n.1067-4100G>A
NM_001371659.1:c.941G>A	NP_001358588.1:p.Arg314His
NM_001371660.1:c.725G>A	NP_001358589.1:p.Arg242His
NM_001371661.1:c.725G>A	NP_001358590.1:p.Arg242His
NM_016481.4:c.1163G>A	NP_057565.3:p.Arg388His
ENST00000375118.1:c.725G>A	ENSP00000364259.1:p.Arg242His
ENST00000375119.7:c.1163G>A	ENSP00000364260.3:p.Arg388His
ENST00000611338.4:c.*295G>A	ENSP00000483071.1:n.*295G>A
XM_005252047.3:c.1067-4100G>A	XP_005252104.1:n.1067-4100G>A
XM_005252047.4:c.1067-4100G>A	XP_005252104.1:n.1067-4100G>A
XM_005252048.3:c.725G>A	XP_005252105.1:p.Arg242His
XM_005252049.3:c.725G>A	XP_005252106.1:p.Arg242His
XM_005252049.5:c.725G>A	XP_005252106.1:p.Arg242His
XM_005252050.3:c.725G>A	XP_005252107.1:p.Arg242His
XM_005252050.4:c.725G>A	XP_005252107.1:p.Arg242His
XM_011518776.1:c.1066+5064G>A	XP_011517078.1:n.1066+5064G>A
XM_011518776.3:c.1066+5064G>A	XP_011517078.1:n.1066+5064G>A
XM_011518777.1:c.854G>A	XP_011517079.1:p.Arg285His
XM_011518778.1:c.854G>A	XP_011517080.1:p.Arg285His
XM_011518779.1:c.854G>A	XP_011517081.1:p.Arg285His
XM_024447569.1:c.725G>A	XP_024303337.1:p.Arg242His
XR_929808.1:n.1101-4100G>A
XR_929808.3:n.1123-4100G>A
XR_929809.1:n.1101-4100G>A
XR_929810.1:n.1101-4100G>A