Canonical Allele Identifier: CA415257368

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153608074A>G (hg19) ; chrX:g.154379714A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379714A>G , CM000685.2:g.154379714A>G	GRCh38
NC_000023.10:g.153608074A>G , CM000685.1:g.153608074A>G	GRCh37
NC_000023.9:g.153261268A>G	NCBI36
NG_008677.1:g.10279A>G , LRG_745:g.10279A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.107A>G	ENSP00000507245.1:p.Lys36Arg
ENST00000682478.1:n.83A>G
ENST00000683576.1:n.83A>G
ENST00000683627.1:c.107A>G	ENSP00000507533.1:p.Lys36Arg
ENST00000684082.1:c.107A>G	ENSP00000508266.1:p.Lys36Arg
ENST00000684633.1:n.79A>G
ENST00000684678.1:c.103A>G	ENSP00000507059.1:p.Arg35Gly
ENST00000369842.9:c.107A>G MANE Select	ENSP00000358857.4:p.Lys36Arg
ENST00000369835.3:c.82+148A>G	ENSP00000358850.3:n.82+148A>G
ENST00000369842.8:c.107A>G	ENSP00000358857.4:p.Lys36Arg
ENST00000428228.5:c.*12A>G	ENSP00000401081.1:n.*12A>G
ENST00000468294.5:n.67A>G
ENST00000485261.1:n.163+148A>G
ENST00000486738.5:n.251A>G
ENST00000492448.1:n.90A>G
ENST00000494443.5:n.164A>G
NM_000117.2:c.107A>G , LRG_745t1:c.107A>G	NP_000108.1:p.Lys36Arg
XM_024452349.1:c.-102A>G	XP_024308117.1:n.-102A>G
NM_000117.3:c.107A>G MANE Select	NP_000108.1:p.Lys36Arg