Canonical Allele Identifier: CA519277806

Gene: EMD

Linked Data

• ClinVar Variation Id: 1489618
• ClinVar RCV Id: RCV001978359
• dbSNP Id: rs2148127991
• gnomAD v4: X-154379536-C-A
• MyVariant Identifiers: chrX:g.153607896C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379536C>A , CM000685.2:g.154379536C>A	GRCh38
NC_000023.10:g.153607896C>A , CM000685.1:g.153607896C>A	GRCh37
NC_000023.9:g.153261090C>A	NCBI36
NG_008677.1:g.10101C>A , LRG_745:g.10101C>A
NG_011506.1:g.111G>T
NG_011506.2:g.103G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.52C>A	ENSP00000507245.1:p.Arg18=
ENST00000682478.1:n.28C>A
ENST00000683576.1:n.28C>A
ENST00000683627.1:c.52C>A	ENSP00000507533.1:p.Arg18=
ENST00000684082.1:c.52C>A	ENSP00000508266.1:p.Arg18=
ENST00000684633.1:n.28C>A
ENST00000684678.1:c.52C>A	ENSP00000507059.1:p.Arg18=
ENST00000369842.9:c.52C>A MANE Select	ENSP00000358857.4:p.Arg18=
ENST00000369835.3:c.52C>A	ENSP00000358850.3:p.Arg18=
ENST00000369842.8:c.52C>A	ENSP00000358857.4:p.Arg18=
ENST00000428228.5:c.52C>A	ENSP00000401081.1:p.Arg18=
ENST00000468294.5:n.12C>A
ENST00000485261.1:n.133C>A
ENST00000486738.5:n.196C>A
ENST00000494443.5:n.109C>A
NM_000117.2:c.52C>A , LRG_745t1:c.52C>A	NP_000108.1:p.Arg18=
XM_024452349.1:c.-157C>A	XP_024308117.1:n.-157C>A
NM_000117.3:c.52C>A MANE Select	NP_000108.1:p.Arg18=