Canonical Allele Identifier: CA415258168

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153609120A>G (hg19) ; chrX:g.154380760A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380760A>G , CM000685.2:g.154380760A>G	GRCh38
NC_000023.10:g.153609120A>G , CM000685.1:g.153609120A>G	GRCh37
NC_000023.9:g.153262314A>G	NCBI36
NG_008677.1:g.11325A>G , LRG_745:g.11325A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.407A>G	ENSP00000507245.1:p.Asp136Gly
ENST00000682478.1:n.597A>G
ENST00000683576.1:n.597A>G
ENST00000683627.1:c.407A>G	ENSP00000507533.1:p.Asp136Gly
ENST00000684082.1:c.364A>G	ENSP00000508266.1:n.364A>G
ENST00000684633.1:n.379A>G
ENST00000684678.1:c.403A>G	ENSP00000507059.1:n.403A>G
ENST00000369842.9:c.407A>G MANE Select	ENSP00000358857.4:p.Asp136Gly
ENST00000369835.3:c.302A>G	ENSP00000358850.3:p.Asp101Gly
ENST00000369842.8:c.407A>G	ENSP00000358857.4:p.Asp136Gly
ENST00000428228.5:c.*312A>G	ENSP00000401081.1:n.*312A>G
ENST00000468294.5:n.367A>G
ENST00000471965.1:n.196A>G
ENST00000485261.1:n.597A>G
ENST00000486738.5:n.765A>G
ENST00000492448.1:n.390A>G
NM_000117.2:c.407A>G , LRG_745t1:c.407A>G	NP_000108.1:p.Asp136Gly
XM_024452349.1:c.413A>G	XP_024308117.1:p.Asp138Gly
NM_000117.3:c.407A>G MANE Select	NP_000108.1:p.Asp136Gly