Canonical Allele Identifier: CA519277943

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153608315T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379955T>C , CM000685.2:g.154379955T>C	GRCh38
NC_000023.10:g.153608315T>C , CM000685.1:g.153608315T>C	GRCh37
NC_000023.9:g.153261509T>C	NCBI36
NG_008677.1:g.10520T>C , LRG_745:g.10520T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.201T>C	ENSP00000507245.1:p.Thr67=
ENST00000682478.1:n.177T>C
ENST00000683576.1:n.177T>C
ENST00000683627.1:c.201T>C	ENSP00000507533.1:p.Thr67=
ENST00000684082.1:c.201T>C	ENSP00000508266.1:p.Thr67=
ENST00000684633.1:n.173T>C
ENST00000684678.1:c.197T>C	ENSP00000507059.1:n.197T>C
ENST00000369842.9:c.201T>C MANE Select	ENSP00000358857.4:p.Thr67=
ENST00000369835.3:c.96T>C	ENSP00000358850.3:p.Thr32=
ENST00000369842.8:c.201T>C	ENSP00000358857.4:p.Thr67=
ENST00000428228.5:c.*106T>C	ENSP00000401081.1:n.*106T>C
ENST00000468294.5:n.161T>C
ENST00000485261.1:n.177T>C
ENST00000486738.5:n.345T>C
ENST00000492448.1:n.184T>C
ENST00000494443.5:n.258T>C
NM_000117.2:c.201T>C , LRG_745t1:c.201T>C	NP_000108.1:p.Thr67=
XM_024452349.1:c.-8T>C	XP_024308117.1:n.-8T>C
NM_000117.3:c.201T>C MANE Select	NP_000108.1:p.Thr67=