Canonical Allele Identifier: CA10561668

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381150T>C , CM000685.2:g.154381150T>C	GRCh38
NC_000023.10:g.153609510T>C , CM000685.1:g.153609510T>C	GRCh37
NC_000023.9:g.153262704T>C	NCBI36
NG_008677.1:g.11715T>C , LRG_745:g.11715T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000117.3:c.718T>C MANE Select	NP_000108.1:p.Phe240Leu
ENST00000369842.9:c.718T>C MANE Select	ENSP00000358857.4:p.Phe240Leu
NM_000117.2:c.718T>C , LRG_745t1:c.718T>C	NP_000108.1:p.Phe240Leu
ENST00000369835.3:c.613T>C	ENSP00000358850.3:p.Phe205Leu
ENST00000369842.8:c.718T>C	ENSP00000358857.4:p.Phe240Leu
ENST00000428228.5:c.*623T>C	ENSP00000401081.1:n.*623T>C
ENST00000471965.1:n.507T>C
ENST00000486738.5:n.1155T>C
ENST00000492448.1:n.701T>C
ENST00000682114.1:c.572+146T>C	ENSP00000507245.1:n.572+146T>C
ENST00000682478.1:n.762+146T>C
ENST00000683576.1:n.908T>C
ENST00000683627.1:c.718T>C	ENSP00000507533.1:p.Phe240Leu
ENST00000684082.1:c.675T>C	ENSP00000508266.1:n.675T>C
ENST00000684633.1:n.690T>C
ENST00000684678.1:c.568+146T>C	ENSP00000507059.1:n.568+146T>C
XM_024452349.1:c.724T>C	XP_024308117.1:p.Phe242Leu