Canonical Allele Identifier: CA415257827

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153608612A>G (hg19) ; chrX:g.154380252A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380252A>G , CM000685.2:g.154380252A>G	GRCh38
NC_000023.10:g.153608612A>G , CM000685.1:g.153608612A>G	GRCh37
NC_000023.9:g.153261806A>G	NCBI36
NG_008677.1:g.10817A>G , LRG_745:g.10817A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.284A>G	ENSP00000507245.1:p.Tyr95Cys
ENST00000682478.1:n.474A>G
ENST00000683576.1:n.474A>G
ENST00000683627.1:c.284A>G	ENSP00000507533.1:p.Tyr95Cys
ENST00000684082.1:c.266-25A>G	ENSP00000508266.1:n.266-25A>G
ENST00000684633.1:n.256A>G
ENST00000684678.1:c.280A>G	ENSP00000507059.1:n.280A>G
ENST00000369842.9:c.284A>G MANE Select	ENSP00000358857.4:p.Tyr95Cys
ENST00000369835.3:c.179A>G	ENSP00000358850.3:p.Tyr60Cys
ENST00000369842.8:c.284A>G	ENSP00000358857.4:p.Tyr95Cys
ENST00000428228.5:c.*189A>G	ENSP00000401081.1:n.*189A>G
ENST00000468294.5:n.244A>G
ENST00000485261.1:n.474A>G
ENST00000486738.5:n.642A>G
ENST00000492448.1:n.267A>G
ENST00000494443.5:n.555A>G
NM_000117.2:c.284A>G , LRG_745t1:c.284A>G	NP_000108.1:p.Tyr95Cys
XM_024452349.1:c.290A>G	XP_024308117.1:p.Tyr97Cys
NM_000117.3:c.284A>G MANE Select	NP_000108.1:p.Tyr95Cys