Canonical Allele Identifier: CA415257684

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153608346A>G (hg19) ; chrX:g.154379986A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379986A>G , CM000685.2:g.154379986A>G	GRCh38
NC_000023.10:g.153608346A>G , CM000685.1:g.153608346A>G	GRCh37
NC_000023.9:g.153261540A>G	NCBI36
NG_008677.1:g.10551A>G , LRG_745:g.10551A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.232A>G	ENSP00000507245.1:p.Lys78Glu
ENST00000682478.1:n.208A>G
ENST00000683576.1:n.208A>G
ENST00000683627.1:c.232A>G	ENSP00000507533.1:p.Lys78Glu
ENST00000684082.1:c.232A>G	ENSP00000508266.1:p.Lys78Glu
ENST00000684633.1:n.204A>G
ENST00000684678.1:c.228A>G	ENSP00000507059.1:n.228A>G
ENST00000369842.9:c.232A>G MANE Select	ENSP00000358857.4:p.Lys78Glu
ENST00000369835.3:c.127A>G	ENSP00000358850.3:p.Lys43Glu
ENST00000369842.8:c.232A>G	ENSP00000358857.4:p.Lys78Glu
ENST00000428228.5:c.*137A>G	ENSP00000401081.1:n.*137A>G
ENST00000468294.5:n.192A>G
ENST00000485261.1:n.208A>G
ENST00000486738.5:n.376A>G
ENST00000492448.1:n.215A>G
ENST00000494443.5:n.289A>G
NM_000117.2:c.232A>G , LRG_745t1:c.232A>G	NP_000108.1:p.Lys78Glu
XM_024452349.1:c.24A>G	XP_024308117.1:p.Pro8=
NM_000117.3:c.232A>G MANE Select	NP_000108.1:p.Lys78Glu