Canonical Allele Identifier: CA2466663960

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379983C= , CM000685.2:g.154379983C=	GRCh38
NC_000023.10:g.153608343C= , CM000685.1:g.153608343C=	GRCh37
NC_000023.9:g.153261537C=	NCBI36
NG_008677.1:g.10548C= , LRG_745:g.10548C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.229C=	ENSP00000507245.1:p.Pro77=
ENST00000682478.1:n.205C=
ENST00000683576.1:n.205C=
ENST00000683627.1:c.229C=	ENSP00000507533.1:p.Pro77=
ENST00000684082.1:c.229C=	ENSP00000508266.1:p.Pro77=
ENST00000684633.1:n.201C=
ENST00000684678.1:c.225C=	ENSP00000507059.1:n.225C=
ENST00000369842.9:c.229C= MANE Select	ENSP00000358857.4:p.Pro77=
ENST00000369835.3:c.124C=	ENSP00000358850.3:p.Pro42=
ENST00000369842.8:c.229C=	ENSP00000358857.4:p.Pro77=
ENST00000428228.5:c.*134C=	ENSP00000401081.1:n.*134C=
ENST00000468294.5:n.189C=
ENST00000485261.1:n.205C=
ENST00000486738.5:n.373C=
ENST00000492448.1:n.212C=
ENST00000494443.5:n.286C=
NM_000117.2:c.229C= , LRG_745t1:c.229C=	NP_000108.1:p.Pro77=
XM_024452349.1:c.21C=	XP_024308117.1:p.Phe7=
NM_000117.3:c.229C= MANE Select	NP_000108.1:p.Pro77=