Canonical Allele Identifier: CA2466664418

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381011C= , CM000685.2:g.154381011C=	GRCh38
NC_000023.10:g.153609371C= , CM000685.1:g.153609371C=	GRCh37
NC_000023.9:g.153262565C=	NCBI36
NG_008677.1:g.11576C= , LRG_745:g.11576C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.572+7C=	ENSP00000507245.1:n.572+7C=
ENST00000682478.1:n.762+7C=
ENST00000683576.1:n.769C=
ENST00000683627.1:c.579C=	ENSP00000507533.1:p.Ser193=
ENST00000684082.1:c.536C=	ENSP00000508266.1:n.536C=
ENST00000684633.1:n.551C=
ENST00000684678.1:c.568+7C=	ENSP00000507059.1:n.568+7C=
ENST00000369842.9:c.579C= MANE Select	ENSP00000358857.4:p.Ser193=
ENST00000369835.3:c.474C=	ENSP00000358850.3:p.Ser158=
ENST00000369842.8:c.579C=	ENSP00000358857.4:p.Ser193=
ENST00000428228.5:c.*484C=	ENSP00000401081.1:n.*484C=
ENST00000471965.1:n.368C=
ENST00000486738.5:n.1016C=
ENST00000492448.1:n.562C=
NM_000117.2:c.579C= , LRG_745t1:c.579C=	NP_000108.1:p.Ser193=
XM_024452349.1:c.585C=	XP_024308117.1:p.Ser195=
NM_000117.3:c.579C= MANE Select	NP_000108.1:p.Ser193=