Canonical Allele Identifier: CA415258233

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380775C>T , CM000685.2:g.154380775C>T	GRCh38
NC_000023.10:g.153609135C>T , CM000685.1:g.153609135C>T	GRCh37
NC_000023.9:g.153262329C>T	NCBI36
NG_008677.1:g.11340C>T , LRG_745:g.11340C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000117.3:c.422C>T MANE Select	NP_000108.1:p.Ser141Phe
ENST00000369842.9:c.422C>T MANE Select	ENSP00000358857.4:p.Ser141Phe
NM_000117.2:c.422C>T , LRG_745t1:c.422C>T	NP_000108.1:p.Ser141Phe
ENST00000369835.3:c.317C>T	ENSP00000358850.3:p.Ser106Phe
ENST00000369842.8:c.422C>T	ENSP00000358857.4:p.Ser141Phe
ENST00000428228.5:c.*327C>T	ENSP00000401081.1:n.*327C>T
ENST00000468294.5:n.382C>T
ENST00000471965.1:n.211C>T
ENST00000485261.1:n.612C>T
ENST00000486738.5:n.780C>T
ENST00000492448.1:n.405C>T
ENST00000682114.1:c.422C>T	ENSP00000507245.1:p.Ser141Phe
ENST00000682478.1:n.612C>T
ENST00000683576.1:n.612C>T
ENST00000683627.1:c.422C>T	ENSP00000507533.1:p.Ser141Phe
ENST00000684082.1:c.379C>T	ENSP00000508266.1:n.379C>T
ENST00000684633.1:n.394C>T
ENST00000684678.1:c.418C>T	ENSP00000507059.1:n.418C>T
XM_024452349.1:c.428C>T	XP_024308117.1:p.Ser143Phe