Canonical Allele Identifier: CA415258580

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153609285A>C (hg19) ; chrX:g.154380925A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380925A>C , CM000685.2:g.154380925A>C	GRCh38
NC_000023.10:g.153609285A>C , CM000685.1:g.153609285A>C	GRCh37
NC_000023.9:g.153262479A>C	NCBI36
NG_008677.1:g.11490A>C , LRG_745:g.11490A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.493A>C	ENSP00000507245.1:p.Thr165Pro
ENST00000682478.1:n.683A>C
ENST00000683576.1:n.683A>C
ENST00000683627.1:c.493A>C	ENSP00000507533.1:p.Thr165Pro
ENST00000684082.1:c.450A>C	ENSP00000508266.1:n.450A>C
ENST00000684633.1:n.465A>C
ENST00000684678.1:c.489A>C	ENSP00000507059.1:n.489A>C
ENST00000369842.9:c.493A>C MANE Select	ENSP00000358857.4:p.Thr165Pro
ENST00000369835.3:c.388A>C	ENSP00000358850.3:p.Thr130Pro
ENST00000369842.8:c.493A>C	ENSP00000358857.4:p.Thr165Pro
ENST00000428228.5:c.*398A>C	ENSP00000401081.1:n.*398A>C
ENST00000471965.1:n.282A>C
ENST00000485261.1:n.762A>C
ENST00000486738.5:n.930A>C
ENST00000492448.1:n.476A>C
NM_000117.2:c.493A>C , LRG_745t1:c.493A>C	NP_000108.1:p.Thr165Pro
XM_024452349.1:c.499A>C	XP_024308117.1:p.Thr167Pro
NM_000117.3:c.493A>C MANE Select	NP_000108.1:p.Thr165Pro