Canonical Allele Identifier: CA519278046

Gene: EMD

Linked Data

• ClinVar Variation Id: 1199348
• ClinVar RCV Id: RCV001563916
• dbSNP Id: rs2148128483
• MyVariant Identifiers: chrX:g.153608613T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380253T>C , CM000685.2:g.154380253T>C	GRCh38
NC_000023.10:g.153608613T>C , CM000685.1:g.153608613T>C	GRCh37
NC_000023.9:g.153261807T>C	NCBI36
NG_008677.1:g.10818T>C , LRG_745:g.10818T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.285T>C	ENSP00000507245.1:p.Tyr95=
ENST00000682478.1:n.475T>C
ENST00000683576.1:n.475T>C
ENST00000683627.1:c.285T>C	ENSP00000507533.1:p.Tyr95=
ENST00000684082.1:c.266-24T>C	ENSP00000508266.1:n.266-24T>C
ENST00000684633.1:n.257T>C
ENST00000684678.1:c.281T>C	ENSP00000507059.1:n.281T>C
ENST00000369842.9:c.285T>C MANE Select	ENSP00000358857.4:p.Tyr95=
ENST00000369835.3:c.180T>C	ENSP00000358850.3:p.Tyr60=
ENST00000369842.8:c.285T>C	ENSP00000358857.4:p.Tyr95=
ENST00000428228.5:c.*190T>C	ENSP00000401081.1:n.*190T>C
ENST00000468294.5:n.245T>C
ENST00000485261.1:n.475T>C
ENST00000486738.5:n.643T>C
ENST00000492448.1:n.268T>C
ENST00000494443.5:n.556T>C
NM_000117.2:c.285T>C , LRG_745t1:c.285T>C	NP_000108.1:p.Tyr95=
XM_024452349.1:c.291T>C	XP_024308117.1:p.Tyr97=
NM_000117.3:c.285T>C MANE Select	NP_000108.1:p.Tyr95=