Canonical Allele Identifier: CA415259162

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153609458G>T (hg19) ; chrX:g.154381098G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381098G>T , CM000685.2:g.154381098G>T	GRCh38
NC_000023.10:g.153609458G>T , CM000685.1:g.153609458G>T	GRCh37
NC_000023.9:g.153262652G>T	NCBI36
NG_008677.1:g.11663G>T , LRG_745:g.11663G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.572+94G>T	ENSP00000507245.1:n.572+94G>T
ENST00000682478.1:n.762+94G>T
ENST00000683576.1:n.856G>T
ENST00000683627.1:c.666G>T	ENSP00000507533.1:p.Gln222His
ENST00000684082.1:c.623G>T	ENSP00000508266.1:n.623G>T
ENST00000684633.1:n.638G>T
ENST00000684678.1:c.568+94G>T	ENSP00000507059.1:n.568+94G>T
ENST00000369842.9:c.666G>T MANE Select	ENSP00000358857.4:p.Gln222His
ENST00000369835.3:c.561G>T	ENSP00000358850.3:p.Gln187His
ENST00000369842.8:c.666G>T	ENSP00000358857.4:p.Gln222His
ENST00000428228.5:c.*571G>T	ENSP00000401081.1:n.*571G>T
ENST00000471965.1:n.455G>T
ENST00000486738.5:n.1103G>T
ENST00000492448.1:n.649G>T
NM_000117.2:c.666G>T , LRG_745t1:c.666G>T	NP_000108.1:p.Gln222His
XM_024452349.1:c.672G>T	XP_024308117.1:p.Gln224His
NM_000117.3:c.666G>T MANE Select	NP_000108.1:p.Gln222His