Canonical Allele Identifier: CA415257553

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153608147C>A (hg19) ; chrX:g.154379787C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379787C>A , CM000685.2:g.154379787C>A	GRCh38
NC_000023.10:g.153608147C>A , CM000685.1:g.153608147C>A	GRCh37
NC_000023.9:g.153261341C>A	NCBI36
NG_008677.1:g.10352C>A , LRG_745:g.10352C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.180C>A	ENSP00000507245.1:p.Ser60Arg
ENST00000682478.1:n.156C>A
ENST00000683576.1:n.156C>A
ENST00000683627.1:c.180C>A	ENSP00000507533.1:p.Ser60Arg
ENST00000684082.1:c.180C>A	ENSP00000508266.1:p.Ser60Arg
ENST00000684633.1:n.152C>A
ENST00000684678.1:c.176C>A	ENSP00000507059.1:p.Ala59Asp
ENST00000369842.9:c.180C>A MANE Select	ENSP00000358857.4:p.Ser60Arg
ENST00000369835.3:c.83-155C>A	ENSP00000358850.3:n.83-155C>A
ENST00000369842.8:c.180C>A	ENSP00000358857.4:p.Ser60Arg
ENST00000428228.5:c.*85C>A	ENSP00000401081.1:n.*85C>A
ENST00000468294.5:n.140C>A
ENST00000485261.1:n.164-155C>A
ENST00000486738.5:n.324C>A
ENST00000492448.1:n.163C>A
ENST00000494443.5:n.237C>A
NM_000117.2:c.180C>A , LRG_745t1:c.180C>A	NP_000108.1:p.Ser60Arg
XM_024452349.1:c.-29C>A	XP_024308117.1:n.-29C>A
NM_000117.3:c.180C>A MANE Select	NP_000108.1:p.Ser60Arg