Canonical Allele Identifier: CA519277952

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153608327A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379967A>G , CM000685.2:g.154379967A>G	GRCh38
NC_000023.10:g.153608327A>G , CM000685.1:g.153608327A>G	GRCh37
NC_000023.9:g.153261521A>G	NCBI36
NG_008677.1:g.10532A>G , LRG_745:g.10532A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.213A>G	ENSP00000507245.1:p.Ala71=
ENST00000682478.1:n.189A>G
ENST00000683576.1:n.189A>G
ENST00000683627.1:c.213A>G	ENSP00000507533.1:p.Ala71=
ENST00000684082.1:c.213A>G	ENSP00000508266.1:p.Ala71=
ENST00000684633.1:n.185A>G
ENST00000684678.1:c.209A>G	ENSP00000507059.1:n.209A>G
ENST00000369842.9:c.213A>G MANE Select	ENSP00000358857.4:p.Ala71=
ENST00000369835.3:c.108A>G	ENSP00000358850.3:p.Ala36=
ENST00000369842.8:c.213A>G	ENSP00000358857.4:p.Ala71=
ENST00000428228.5:c.*118A>G	ENSP00000401081.1:n.*118A>G
ENST00000468294.5:n.173A>G
ENST00000485261.1:n.189A>G
ENST00000486738.5:n.357A>G
ENST00000492448.1:n.196A>G
ENST00000494443.5:n.270A>G
NM_000117.2:c.213A>G , LRG_745t1:c.213A>G	NP_000108.1:p.Ala71=
XM_024452349.1:c.5A>G	XP_024308117.1:p.Gln2Arg
NM_000117.3:c.213A>G MANE Select	NP_000108.1:p.Ala71=