Canonical Allele Identifier: CA415256969

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153607884A>G (hg19) ; chrX:g.154379524A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379524A>G , CM000685.2:g.154379524A>G	GRCh38
NC_000023.10:g.153607884A>G , CM000685.1:g.153607884A>G	GRCh37
NC_000023.9:g.153261078A>G	NCBI36
NG_008677.1:g.10089A>G , LRG_745:g.10089A>G
NG_011506.1:g.123T>C
NG_011506.2:g.115T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.40A>G	ENSP00000507245.1:p.Thr14Ala
ENST00000682478.1:n.16A>G
ENST00000683576.1:n.16A>G
ENST00000683627.1:c.40A>G	ENSP00000507533.1:p.Thr14Ala
ENST00000684082.1:c.40A>G	ENSP00000508266.1:p.Thr14Ala
ENST00000684633.1:n.16A>G
ENST00000684678.1:c.40A>G	ENSP00000507059.1:p.Thr14Ala
ENST00000369842.9:c.40A>G MANE Select	ENSP00000358857.4:p.Thr14Ala
ENST00000369835.3:c.40A>G	ENSP00000358850.3:p.Thr14Ala
ENST00000369842.8:c.40A>G	ENSP00000358857.4:p.Thr14Ala
ENST00000428228.5:c.40A>G	ENSP00000401081.1:p.Thr14Ala
ENST00000485261.1:n.121A>G
ENST00000486738.5:n.184A>G
ENST00000494443.5:n.97A>G
NM_000117.2:c.40A>G , LRG_745t1:c.40A>G	NP_000108.1:p.Thr14Ala
XM_024452349.1:c.-169A>G	XP_024308117.1:n.-169A>G
NM_000117.3:c.40A>G MANE Select	NP_000108.1:p.Thr14Ala