Canonical Allele Identifier: CA415259155

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153609457A>T (hg19) ; chrX:g.154381097A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381097A>T , CM000685.2:g.154381097A>T	GRCh38
NC_000023.10:g.153609457A>T , CM000685.1:g.153609457A>T	GRCh37
NC_000023.9:g.153262651A>T	NCBI36
NG_008677.1:g.11662A>T , LRG_745:g.11662A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.572+93A>T	ENSP00000507245.1:n.572+93A>T
ENST00000682478.1:n.762+93A>T
ENST00000683576.1:n.855A>T
ENST00000683627.1:c.665A>T	ENSP00000507533.1:p.Gln222Leu
ENST00000684082.1:c.622A>T	ENSP00000508266.1:n.622A>T
ENST00000684633.1:n.637A>T
ENST00000684678.1:c.568+93A>T	ENSP00000507059.1:n.568+93A>T
ENST00000369842.9:c.665A>T MANE Select	ENSP00000358857.4:p.Gln222Leu
ENST00000369835.3:c.560A>T	ENSP00000358850.3:p.Gln187Leu
ENST00000369842.8:c.665A>T	ENSP00000358857.4:p.Gln222Leu
ENST00000428228.5:c.*570A>T	ENSP00000401081.1:n.*570A>T
ENST00000471965.1:n.454A>T
ENST00000486738.5:n.1102A>T
ENST00000492448.1:n.648A>T
NM_000117.2:c.665A>T , LRG_745t1:c.665A>T	NP_000108.1:p.Gln222Leu
XM_024452349.1:c.671A>T	XP_024308117.1:p.Gln224Leu
NM_000117.3:c.665A>T MANE Select	NP_000108.1:p.Gln222Leu