Canonical Allele Identifier: CA2466664300

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380772T= , CM000685.2:g.154380772T=	GRCh38
NC_000023.10:g.153609132T= , CM000685.1:g.153609132T=	GRCh37
NC_000023.9:g.153262326T=	NCBI36
NG_008677.1:g.11337T= , LRG_745:g.11337T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.419T=	ENSP00000507245.1:p.Leu140=
ENST00000682478.1:n.609T=
ENST00000683576.1:n.609T=
ENST00000683627.1:c.419T=	ENSP00000507533.1:p.Leu140=
ENST00000684082.1:c.376T=	ENSP00000508266.1:n.376T=
ENST00000684633.1:n.391T=
ENST00000684678.1:c.415T=	ENSP00000507059.1:n.415T=
ENST00000369842.9:c.419T= MANE Select	ENSP00000358857.4:p.Leu140=
ENST00000369835.3:c.314T=	ENSP00000358850.3:p.Leu105=
ENST00000369842.8:c.419T=	ENSP00000358857.4:p.Leu140=
ENST00000428228.5:c.*324T=	ENSP00000401081.1:n.*324T=
ENST00000468294.5:n.379T=
ENST00000471965.1:n.208T=
ENST00000485261.1:n.609T=
ENST00000486738.5:n.777T=
ENST00000492448.1:n.402T=
NM_000117.2:c.419T= , LRG_745t1:c.419T=	NP_000108.1:p.Leu140=
XM_024452349.1:c.425T=	XP_024308117.1:p.Leu142=
NM_000117.3:c.419T= MANE Select	NP_000108.1:p.Leu140=