Canonical Allele Identifier: CA415259366

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381152C>G , CM000685.2:g.154381152C>G	GRCh38
NC_000023.10:g.153609512C>G , CM000685.1:g.153609512C>G	GRCh37
NC_000023.9:g.153262706C>G	NCBI36
NG_008677.1:g.11717C>G , LRG_745:g.11717C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000117.3:c.720C>G MANE Select	NP_000108.1:p.Phe240Leu
ENST00000369842.9:c.720C>G MANE Select	ENSP00000358857.4:p.Phe240Leu
NM_000117.2:c.720C>G , LRG_745t1:c.720C>G	NP_000108.1:p.Phe240Leu
ENST00000369835.3:c.615C>G	ENSP00000358850.3:p.Phe205Leu
ENST00000369842.8:c.720C>G	ENSP00000358857.4:p.Phe240Leu
ENST00000428228.5:c.*625C>G	ENSP00000401081.1:n.*625C>G
ENST00000471965.1:n.509C>G
ENST00000486738.5:n.1157C>G
ENST00000492448.1:n.703C>G
ENST00000682114.1:c.572+148C>G	ENSP00000507245.1:n.572+148C>G
ENST00000682478.1:n.762+148C>G
ENST00000683576.1:n.910C>G
ENST00000683627.1:c.720C>G	ENSP00000507533.1:p.Phe240Leu
ENST00000684082.1:c.677C>G	ENSP00000508266.1:n.677C>G
ENST00000684633.1:n.692C>G
ENST00000684678.1:c.568+148C>G	ENSP00000507059.1:n.568+148C>G
XM_024452349.1:c.726C>G	XP_024308117.1:p.Phe242Leu