Canonical Allele Identifier: CA519277812

Gene: EMD

Linked Data

• ClinVar Variation Id: 2144589
• ClinVar RCV Id: RCV003071010
• gnomAD v4: X-154379547-C-T
• MyVariant Identifiers: chrX:g.153607907C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379547C>T , CM000685.2:g.154379547C>T	GRCh38
NC_000023.10:g.153607907C>T , CM000685.1:g.153607907C>T	GRCh37
NC_000023.9:g.153261101C>T	NCBI36
NG_008677.1:g.10112C>T , LRG_745:g.10112C>T
NG_011506.1:g.100G>A
NG_011506.2:g.92G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.63C>T	ENSP00000507245.1:p.Ile21=
ENST00000682478.1:n.39C>T
ENST00000683576.1:n.39C>T
ENST00000683627.1:c.63C>T	ENSP00000507533.1:p.Ile21=
ENST00000684082.1:c.63C>T	ENSP00000508266.1:p.Ile21=
ENST00000684633.1:n.39C>T
ENST00000684678.1:c.63C>T	ENSP00000507059.1:p.Ile21=
ENST00000369842.9:c.63C>T MANE Select	ENSP00000358857.4:p.Ile21=
ENST00000369835.3:c.63C>T	ENSP00000358850.3:p.Ile21=
ENST00000369842.8:c.63C>T	ENSP00000358857.4:p.Ile21=
ENST00000428228.5:c.53+10C>T	ENSP00000401081.1:n.53+10C>T
ENST00000468294.5:n.23C>T
ENST00000485261.1:n.144C>T
ENST00000486738.5:n.207C>T
ENST00000494443.5:n.120C>T
NM_000117.2:c.63C>T , LRG_745t1:c.63C>T	NP_000108.1:p.Ile21=
XM_024452349.1:c.-146C>T	XP_024308117.1:n.-146C>T
NM_000117.3:c.63C>T MANE Select	NP_000108.1:p.Ile21=