Canonical Allele Identifier: CA415258205

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380768C>T , CM000685.2:g.154380768C>T	GRCh38
NC_000023.10:g.153609128C>T , CM000685.1:g.153609128C>T	GRCh37
NC_000023.9:g.153262322C>T	NCBI36
NG_008677.1:g.11333C>T , LRG_745:g.11333C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000117.3:c.415C>T MANE Select	NP_000108.1:p.Leu139Phe
ENST00000369842.9:c.415C>T MANE Select	ENSP00000358857.4:p.Leu139Phe
NM_000117.2:c.415C>T , LRG_745t1:c.415C>T	NP_000108.1:p.Leu139Phe
ENST00000369835.3:c.310C>T	ENSP00000358850.3:p.Leu104Phe
ENST00000369842.8:c.415C>T	ENSP00000358857.4:p.Leu139Phe
ENST00000428228.5:c.*320C>T	ENSP00000401081.1:n.*320C>T
ENST00000468294.5:n.375C>T
ENST00000471965.1:n.204C>T
ENST00000485261.1:n.605C>T
ENST00000486738.5:n.773C>T
ENST00000492448.1:n.398C>T
ENST00000682114.1:c.415C>T	ENSP00000507245.1:p.Leu139Phe
ENST00000682478.1:n.605C>T
ENST00000683576.1:n.605C>T
ENST00000683627.1:c.415C>T	ENSP00000507533.1:p.Leu139Phe
ENST00000684082.1:c.372C>T	ENSP00000508266.1:n.372C>T
ENST00000684633.1:n.387C>T
ENST00000684678.1:c.411C>T	ENSP00000507059.1:n.411C>T
XM_024452349.1:c.421C>T	XP_024308117.1:p.Leu141Phe