Canonical Allele Identifier: CA415257838

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153608616A>T (hg19) ; chrX:g.154380256A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380256A>T , CM000685.2:g.154380256A>T	GRCh38
NC_000023.10:g.153608616A>T , CM000685.1:g.153608616A>T	GRCh37
NC_000023.9:g.153261810A>T	NCBI36
NG_008677.1:g.10821A>T , LRG_745:g.10821A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.288A>T	ENSP00000507245.1:p.Glu96Asp
ENST00000682478.1:n.478A>T
ENST00000683576.1:n.478A>T
ENST00000683627.1:c.288A>T	ENSP00000507533.1:p.Glu96Asp
ENST00000684082.1:c.266-21A>T	ENSP00000508266.1:n.266-21A>T
ENST00000684633.1:n.260A>T
ENST00000684678.1:c.284A>T	ENSP00000507059.1:n.284A>T
ENST00000369842.9:c.288A>T MANE Select	ENSP00000358857.4:p.Glu96Asp
ENST00000369835.3:c.183A>T	ENSP00000358850.3:p.Glu61Asp
ENST00000369842.8:c.288A>T	ENSP00000358857.4:p.Glu96Asp
ENST00000428228.5:c.*193A>T	ENSP00000401081.1:n.*193A>T
ENST00000468294.5:n.248A>T
ENST00000485261.1:n.478A>T
ENST00000486738.5:n.646A>T
ENST00000492448.1:n.271A>T
ENST00000494443.5:n.559A>T
NM_000117.2:c.288A>T , LRG_745t1:c.288A>T	NP_000108.1:p.Glu96Asp
XM_024452349.1:c.294A>T	XP_024308117.1:p.Glu98Asp
NM_000117.3:c.288A>T MANE Select	NP_000108.1:p.Glu96Asp