Canonical Allele Identifier: CA1139826444

Gene: EMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.19242478A= , CM000663.2:g.19242478A=	GRCh38
NC_000001.10:g.19568972A= , CM000663.1:g.19568972A=	GRCh37
NC_000001.9:g.19441559A=	NCBI36
NG_032948.1:g.14082T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486405.2:c.381-5T=	ENSP00000419345.2:n.381-5T=
ENST00000488681.2:c.*89-5T=	ENSP00000510702.1:n.*89-5T=
ENST00000685099.1:c.*145-5T=	ENSP00000509737.1:n.*145-5T=
ENST00000685594.1:c.381-5T=	ENSP00000510232.1:n.381-5T=
ENST00000688219.1:c.381-5T=	ENSP00000510231.1:n.381-5T=
ENST00000688332.1:c.212-5T=
ENST00000688538.1:c.*243-5T=	ENSP00000508615.1:n.*243-5T=
ENST00000688667.1:c.381-5T=	ENSP00000509418.1:n.381-5T=
ENST00000689748.1:n.555-5T=
ENST00000690451.1:n.1314-5T=
ENST00000690732.1:c.381-5T=	ENSP00000510581.1:n.381-5T=
ENST00000690823.1:c.381-5T=	ENSP00000509286.1:n.381-5T=
ENST00000692207.1:c.*145-5T=	ENSP00000509071.1:n.*145-5T=
ENST00000477853.6:c.381-5T= MANE Select	ENSP00000420608.1:n.381-5T=
ENST00000375199.7:c.381-5T=	ENSP00000364345.3:n.381-5T=
ENST00000375208.7:c.315-5T=	ENSP00000364354.3:n.315-5T=
ENST00000477853.5:c.381-5T=	ENSP00000420608.1:n.381-5T=
NM_001271427.1:c.381-5T=	NP_001258356.1:n.381-5T=
NM_001271428.1:c.381-5T=	NP_001258357.1:n.381-5T=
NM_001271429.1:c.315-5T=	NP_001258358.1:n.315-5T=
NM_015047.2:c.381-5T=	NP_055862.1:n.381-5T=
XM_005245787.1:c.381-5T=	XP_005245844.1:n.381-5T=
XM_005245788.1:c.381-5T=	XP_005245845.1:n.381-5T=
XM_005245787.2:c.381-5T=	XP_005245844.1:n.381-5T=
XM_005245788.2:c.381-5T=	XP_005245845.1:n.381-5T=
NM_015047.3:c.381-5T= MANE Select	NP_055862.1:n.381-5T=
NM_001271427.2:c.381-5T=	NP_001258356.1:n.381-5T=
NM_001271428.2:c.381-5T=	NP_001258357.1:n.381-5T=
NM_001271429.2:c.315-5T=	NP_001258358.1:n.315-5T=
NM_001375820.1:c.381-5T=	NP_001362749.1:n.381-5T=
NM_001375821.1:c.381-5T=	NP_001362750.1:n.381-5T=