Canonical Allele Identifier: CA415258969

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381025C>T , CM000685.2:g.154381025C>T	GRCh38
NC_000023.10:g.153609385C>T , CM000685.1:g.153609385C>T	GRCh37
NC_000023.9:g.153262579C>T	NCBI36
NG_008677.1:g.11590C>T , LRG_745:g.11590C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000117.3:c.593C>T MANE Select	NP_000108.1:p.Ser198Phe
ENST00000369842.9:c.593C>T MANE Select	ENSP00000358857.4:p.Ser198Phe
NM_000117.2:c.593C>T , LRG_745t1:c.593C>T	NP_000108.1:p.Ser198Phe
ENST00000369835.3:c.488C>T	ENSP00000358850.3:p.Ser163Phe
ENST00000369842.8:c.593C>T	ENSP00000358857.4:p.Ser198Phe
ENST00000428228.5:c.*498C>T	ENSP00000401081.1:n.*498C>T
ENST00000471965.1:n.382C>T
ENST00000486738.5:n.1030C>T
ENST00000492448.1:n.576C>T
ENST00000682114.1:c.572+21C>T	ENSP00000507245.1:n.572+21C>T
ENST00000682478.1:n.762+21C>T
ENST00000683576.1:n.783C>T
ENST00000683627.1:c.593C>T	ENSP00000507533.1:p.Ser198Phe
ENST00000684082.1:c.550C>T	ENSP00000508266.1:n.550C>T
ENST00000684633.1:n.565C>T
ENST00000684678.1:c.568+21C>T	ENSP00000507059.1:n.568+21C>T
XM_024452349.1:c.599C>T	XP_024308117.1:p.Ser200Phe