Canonical Allele Identifier: CA16616634

Gene: EMD

Linked Data

• ClinVar Variation Id: 409877
• ClinVar RCV Id: RCV000458523
• dbSNP Id: rs1060502612
• MyVariant Identifiers: chrX:g.153608090C>A (hg19) ; chrX:g.154379730C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379730C>A , CM000685.2:g.154379730C>A	GRCh38
NC_000023.10:g.153608090C>A , CM000685.1:g.153608090C>A	GRCh37
NC_000023.9:g.153261284C>A	NCBI36
NG_008677.1:g.10295C>A , LRG_745:g.10295C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.123C>A	ENSP00000507245.1:p.Tyr41Ter
ENST00000682478.1:n.99C>A
ENST00000683576.1:n.99C>A
ENST00000683627.1:c.123C>A	ENSP00000507533.1:p.Tyr41Ter
ENST00000684082.1:c.123C>A	ENSP00000508266.1:p.Tyr41Ter
ENST00000684633.1:n.95C>A
ENST00000684678.1:c.119C>A	ENSP00000507059.1:p.Thr40Lys
ENST00000369842.9:c.123C>A MANE Select	ENSP00000358857.4:p.Tyr41Ter
ENST00000369835.3:c.82+164C>A	ENSP00000358850.3:n.82+164C>A
ENST00000369842.8:c.123C>A	ENSP00000358857.4:p.Tyr41Ter
ENST00000428228.5:c.*28C>A	ENSP00000401081.1:n.*28C>A
ENST00000468294.5:n.83C>A
ENST00000485261.1:n.163+164C>A
ENST00000486738.5:n.267C>A
ENST00000492448.1:n.106C>A
ENST00000494443.5:n.180C>A
NM_000117.2:c.123C>A , LRG_745t1:c.123C>A	NP_000108.1:p.Tyr41Ter
XM_024452349.1:c.-86C>A	XP_024308117.1:n.-86C>A
NM_000117.3:c.123C>A MANE Select	NP_000108.1:p.Tyr41Ter