Canonical Allele Identifier: CA519710046

Gene: EMD

Linked Data

• ClinVar Variation Id: 2415612
• ClinVar RCV Id: RCV003104824
• MyVariant Identifiers: chrX:g.153609368C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381008C>G , CM000685.2:g.154381008C>G	GRCh38
NC_000023.10:g.153609368C>G , CM000685.1:g.153609368C>G	GRCh37
NC_000023.9:g.153262562C>G	NCBI36
NG_008677.1:g.11573C>G , LRG_745:g.11573C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.572+4C>G	ENSP00000507245.1:n.572+4C>G
ENST00000682478.1:n.762+4C>G
ENST00000683576.1:n.766C>G
ENST00000683627.1:c.576C>G	ENSP00000507533.1:p.Ser192=
ENST00000684082.1:c.533C>G	ENSP00000508266.1:n.533C>G
ENST00000684633.1:n.548C>G
ENST00000684678.1:c.568+4C>G	ENSP00000507059.1:n.568+4C>G
ENST00000369842.9:c.576C>G MANE Select	ENSP00000358857.4:p.Ser192=
ENST00000369835.3:c.471C>G	ENSP00000358850.3:p.Ser157=
ENST00000369842.8:c.576C>G	ENSP00000358857.4:p.Ser192=
ENST00000428228.5:c.*481C>G	ENSP00000401081.1:n.*481C>G
ENST00000471965.1:n.365C>G
ENST00000486738.5:n.1013C>G
ENST00000492448.1:n.559C>G
NM_000117.2:c.576C>G , LRG_745t1:c.576C>G	NP_000108.1:p.Ser192=
XM_024452349.1:c.582C>G	XP_024308117.1:p.Ser194=
NM_000117.3:c.576C>G MANE Select	NP_000108.1:p.Ser192=