Canonical Allele Identifier: CA415257731

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153608365T>G (hg19) ; chrX:g.154380005T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380005T>G , CM000685.2:g.154380005T>G	GRCh38
NC_000023.10:g.153608365T>G , CM000685.1:g.153608365T>G	GRCh37
NC_000023.9:g.153261559T>G	NCBI36
NG_008677.1:g.10570T>G , LRG_745:g.10570T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.251T>G	ENSP00000507245.1:p.Leu84Arg
ENST00000682478.1:n.227T>G
ENST00000683576.1:n.227T>G
ENST00000683627.1:c.251T>G	ENSP00000507533.1:p.Leu84Arg
ENST00000684082.1:c.251T>G	ENSP00000508266.1:p.Leu84Arg
ENST00000684633.1:n.223T>G
ENST00000684678.1:c.247T>G	ENSP00000507059.1:n.247T>G
ENST00000369842.9:c.251T>G MANE Select	ENSP00000358857.4:p.Leu84Arg
ENST00000369835.3:c.146T>G	ENSP00000358850.3:p.Leu49Arg
ENST00000369842.8:c.251T>G	ENSP00000358857.4:p.Leu84Arg
ENST00000428228.5:c.*156T>G	ENSP00000401081.1:n.*156T>G
ENST00000468294.5:n.211T>G
ENST00000485261.1:n.227T>G
ENST00000486738.5:n.395T>G
ENST00000492448.1:n.234T>G
ENST00000494443.5:n.308T>G
NM_000117.2:c.251T>G , LRG_745t1:c.251T>G	NP_000108.1:p.Leu84Arg
XM_024452349.1:c.43T>G	XP_024308117.1:p.Ser15Ala
NM_000117.3:c.251T>G MANE Select	NP_000108.1:p.Leu84Arg