Canonical Allele Identifier: CA519710053

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153609359T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380999T>C , CM000685.2:g.154380999T>C	GRCh38
NC_000023.10:g.153609359T>C , CM000685.1:g.153609359T>C	GRCh37
NC_000023.9:g.153262553T>C	NCBI36
NG_008677.1:g.11564T>C , LRG_745:g.11564T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.567T>C	ENSP00000507245.1:p.Ser189=
ENST00000682478.1:n.757T>C
ENST00000683576.1:n.757T>C
ENST00000683627.1:c.567T>C	ENSP00000507533.1:p.Ser189=
ENST00000684082.1:c.524T>C	ENSP00000508266.1:n.524T>C
ENST00000684633.1:n.539T>C
ENST00000684678.1:c.563T>C	ENSP00000507059.1:n.563T>C
ENST00000369842.9:c.567T>C MANE Select	ENSP00000358857.4:p.Ser189=
ENST00000369835.3:c.462T>C	ENSP00000358850.3:p.Ser154=
ENST00000369842.8:c.567T>C	ENSP00000358857.4:p.Ser189=
ENST00000428228.5:c.*472T>C	ENSP00000401081.1:n.*472T>C
ENST00000471965.1:n.356T>C
ENST00000486738.5:n.1004T>C
ENST00000492448.1:n.550T>C
NM_000117.2:c.567T>C , LRG_745t1:c.567T>C	NP_000108.1:p.Ser189=
XM_024452349.1:c.573T>C	XP_024308117.1:p.Ser191=
NM_000117.3:c.567T>C MANE Select	NP_000108.1:p.Ser189=