Canonical Allele Identifier: CA415258783

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380978T>A , CM000685.2:g.154380978T>A	GRCh38
NC_000023.10:g.153609338T>A , CM000685.1:g.153609338T>A	GRCh37
NC_000023.9:g.153262532T>A	NCBI36
NG_008677.1:g.11543T>A , LRG_745:g.11543T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000117.3:c.546T>A MANE Select	NP_000108.1:p.Tyr182Ter
ENST00000369842.9:c.546T>A MANE Select	ENSP00000358857.4:p.Tyr182Ter
NM_000117.2:c.546T>A , LRG_745t1:c.546T>A	NP_000108.1:p.Tyr182Ter
ENST00000369835.3:c.441T>A	ENSP00000358850.3:p.Tyr147Ter
ENST00000369842.8:c.546T>A	ENSP00000358857.4:p.Tyr182Ter
ENST00000428228.5:c.*451T>A	ENSP00000401081.1:n.*451T>A
ENST00000471965.1:n.335T>A
ENST00000486738.5:n.983T>A
ENST00000492448.1:n.529T>A
ENST00000682114.1:c.546T>A	ENSP00000507245.1:p.Tyr182Ter
ENST00000682478.1:n.736T>A
ENST00000683576.1:n.736T>A
ENST00000683627.1:c.546T>A	ENSP00000507533.1:p.Tyr182Ter
ENST00000684082.1:c.503T>A	ENSP00000508266.1:n.503T>A
ENST00000684633.1:n.518T>A
ENST00000684678.1:c.542T>A	ENSP00000507059.1:n.542T>A
XM_024452349.1:c.552T>A	XP_024308117.1:p.Tyr184Ter