Canonical Allele Identifier: CA519277820

Gene: EMD

Linked Data

• ClinVar Variation Id: 1758206
• ClinVar RCV Id: RCV002382781
• gnomAD v4: X-154379556-G-T
• MyVariant Identifiers: chrX:g.153607916G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379556G>T , CM000685.2:g.154379556G>T	GRCh38
NC_000023.10:g.153607916G>T , CM000685.1:g.153607916G>T	GRCh37
NC_000023.9:g.153261110G>T	NCBI36
NG_008677.1:g.10121G>T , LRG_745:g.10121G>T
NG_011506.1:g.91C>A
NG_011506.2:g.83C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.72G>T	ENSP00000507245.1:p.Gly24=
ENST00000682478.1:n.48G>T
ENST00000683576.1:n.48G>T
ENST00000683627.1:c.72G>T	ENSP00000507533.1:p.Gly24=
ENST00000684082.1:c.72G>T	ENSP00000508266.1:p.Gly24=
ENST00000684633.1:n.48G>T
ENST00000684678.1:c.72G>T	ENSP00000507059.1:p.Gly24=
ENST00000369842.9:c.72G>T MANE Select	ENSP00000358857.4:p.Gly24=
ENST00000369835.3:c.72G>T	ENSP00000358850.3:p.Gly24=
ENST00000369842.8:c.72G>T	ENSP00000358857.4:p.Gly24=
ENST00000428228.5:c.53+19G>T	ENSP00000401081.1:n.53+19G>T
ENST00000468294.5:n.32G>T
ENST00000485261.1:n.153G>T
ENST00000486738.5:n.216G>T
ENST00000494443.5:n.129G>T
NM_000117.2:c.72G>T , LRG_745t1:c.72G>T	NP_000108.1:p.Gly24=
XM_024452349.1:c.-137G>T	XP_024308117.1:n.-137G>T
NM_000117.3:c.72G>T MANE Select	NP_000108.1:p.Gly24=