Canonical Allele Identifier: CA2264002877

Gene: EME1 LRRC59

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50378832T= , CM000679.2:g.50378832T=	GRCh38
NC_000017.10:g.48456193T= , CM000679.1:g.48456193T=	GRCh37
NC_000017.9:g.45811192T=	NCBI36
NG_029665.1:g.10613T=

Transcript Alleles

HGVS	Amino-acid Change
NM_152463.4:c.1049T= (EME1) MANE Select	NP_689676.2:p.Ile350=
ENST00000338165.9:c.1049T= (EME1) MANE Select	ENSP00000339897.4:p.Ile350=
NM_001166131.1:c.1049T= (EME1)	NP_001159603.1:p.Ile350=
NM_001166131.2:c.1049T= (EME1)	NP_001159603.1:p.Ile350=
NM_152463.2:c.1049T= (EME1)	NP_689676.2:p.Ile350=
NM_152463.3:c.1049T= (EME1)	NP_689676.2:p.Ile350=
ENST00000338165.8:c.1049T= (EME1)	ENSP00000339897.4:p.Ile350=
ENST00000393271.6:c.1049T= (EME1)	ENSP00000376952.2:p.Ile350=
ENST00000503118.2:c.18-2949A= (LRRC59)
ENST00000510007.5:n.621T= (EME1)
ENST00000510246.1:c.483T= (EME1)
ENST00000511648.6:c.1049T= (EME1)	ENSP00000421700.2:p.Ile350=
ENST00000513077.1:n.231T= (EME1)
XM_005257081.2:c.578T= (EME1)	XP_005257138.1:p.Ile193=
XM_005257081.3:c.578T= (EME1)	XP_005257138.1:p.Ile193=
XM_011524392.1:c.962T= (EME1)	XP_011522694.1:p.Ile321=
XM_011524393.1:c.578T= (EME1)	XP_011522695.1:p.Ile193=
XM_011524394.1:c.*3T= (EME1)	XP_011522696.1:n.*3T=
XM_011524395.1:c.80T= (EME1)	XP_011522697.1:p.Ile27=
XM_011524395.2:c.80T= (EME1)	XP_011522697.1:p.Ile27=
XM_011524396.1:c.1049T= (EME1)	XP_011522698.1:p.Ile350=
XM_017024236.2:c.962T= (EME1)	XP_016879725.1:p.Ile321=
XR_002957972.1:n.1126T= (EME1)
XR_934390.1:n.1465T= (EME1)
XR_934390.3:n.1122T= (EME1)
XR_934392.1:n.1465T= (EME1)
XR_934393.1:n.1460T= (EME1)