Canonical Allele Identifier: CA415257517

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379768C>T , CM000685.2:g.154379768C>T	GRCh38
NC_000023.10:g.153608128C>T , CM000685.1:g.153608128C>T	GRCh37
NC_000023.9:g.153261322C>T	NCBI36
NG_008677.1:g.10333C>T , LRG_745:g.10333C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000117.3:c.161C>T MANE Select	NP_000108.1:p.Ser54Phe
ENST00000369842.9:c.161C>T MANE Select	ENSP00000358857.4:p.Ser54Phe
NM_000117.2:c.161C>T , LRG_745t1:c.161C>T	NP_000108.1:p.Ser54Phe
ENST00000369835.3:c.83-174C>T	ENSP00000358850.3:n.83-174C>T
ENST00000369842.8:c.161C>T	ENSP00000358857.4:p.Ser54Phe
ENST00000428228.5:c.*66C>T	ENSP00000401081.1:n.*66C>T
ENST00000468294.5:n.121C>T
ENST00000485261.1:n.164-174C>T
ENST00000486738.5:n.305C>T
ENST00000492448.1:n.144C>T
ENST00000494443.5:n.218C>T
ENST00000682114.1:c.161C>T	ENSP00000507245.1:p.Ser54Phe
ENST00000682478.1:n.137C>T
ENST00000683576.1:n.137C>T
ENST00000683627.1:c.161C>T	ENSP00000507533.1:p.Ser54Phe
ENST00000684082.1:c.161C>T	ENSP00000508266.1:p.Ser54Phe
ENST00000684633.1:n.133C>T
ENST00000684678.1:c.157C>T	ENSP00000507059.1:p.Pro53Ser
XM_024452349.1:c.-48C>T	XP_024308117.1:n.-48C>T