Canonical Allele Identifier: CA415257822

Gene: EMD

Linked Data

• ClinVar Variation Id: 2584927
• ClinVar RCV Id: RCV003340827 ; RCV003523160
• MyVariant Identifiers: chrX:g.153608610C>G (hg19) ; chrX:g.154380250C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380250C>G , CM000685.2:g.154380250C>G	GRCh38
NC_000023.10:g.153608610C>G , CM000685.1:g.153608610C>G	GRCh37
NC_000023.9:g.153261804C>G	NCBI36
NG_008677.1:g.10815C>G , LRG_745:g.10815C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.282C>G	ENSP00000507245.1:p.Tyr94Ter
ENST00000682478.1:n.472C>G
ENST00000683576.1:n.472C>G
ENST00000683627.1:c.282C>G	ENSP00000507533.1:p.Tyr94Ter
ENST00000684082.1:c.266-27C>G	ENSP00000508266.1:n.266-27C>G
ENST00000684633.1:n.254C>G
ENST00000684678.1:c.278C>G	ENSP00000507059.1:n.278C>G
ENST00000369842.9:c.282C>G MANE Select	ENSP00000358857.4:p.Tyr94Ter
ENST00000369835.3:c.177C>G	ENSP00000358850.3:p.Tyr59Ter
ENST00000369842.8:c.282C>G	ENSP00000358857.4:p.Tyr94Ter
ENST00000428228.5:c.*187C>G	ENSP00000401081.1:n.*187C>G
ENST00000468294.5:n.242C>G
ENST00000485261.1:n.472C>G
ENST00000486738.5:n.640C>G
ENST00000492448.1:n.265C>G
ENST00000494443.5:n.553C>G
NM_000117.2:c.282C>G , LRG_745t1:c.282C>G	NP_000108.1:p.Tyr94Ter
XM_024452349.1:c.288C>G	XP_024308117.1:p.Tyr96Ter
NM_000117.3:c.282C>G MANE Select	NP_000108.1:p.Tyr94Ter