Canonical Allele Identifier: CA10561513

Gene: EMD

Linked Data

• ClinVar Variation Id: 1097620
• ClinVar RCV Id: RCV001419250
• dbSNP Id: rs782334564
• ExAC: X:153608084 C / T
• gnomAD v2: X-153608084-C-T
• gnomAD v3: X-154379724-C-T
• gnomAD v4: X-154379724-C-T
• MyVariant Identifiers: chrX:g.153608084C>T (hg19) ; chrX:g.154379724C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379724C>T , CM000685.2:g.154379724C>T	GRCh38
NC_000023.10:g.153608084C>T , CM000685.1:g.153608084C>T	GRCh37
NC_000023.9:g.153261278C>T	NCBI36
NG_008677.1:g.10289C>T , LRG_745:g.10289C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.117C>T	ENSP00000507245.1:p.Phe39=
ENST00000682478.1:n.93C>T
ENST00000683576.1:n.93C>T
ENST00000683627.1:c.117C>T	ENSP00000507533.1:p.Phe39=
ENST00000684082.1:c.117C>T	ENSP00000508266.1:p.Phe39=
ENST00000684633.1:n.89C>T
ENST00000684678.1:c.113C>T	ENSP00000507059.1:p.Ser38Leu
ENST00000369842.9:c.117C>T MANE Select	ENSP00000358857.4:p.Phe39=
ENST00000369835.3:c.82+158C>T	ENSP00000358850.3:n.82+158C>T
ENST00000369842.8:c.117C>T	ENSP00000358857.4:p.Phe39=
ENST00000428228.5:c.*22C>T	ENSP00000401081.1:n.*22C>T
ENST00000468294.5:n.77C>T
ENST00000485261.1:n.163+158C>T
ENST00000486738.5:n.261C>T
ENST00000492448.1:n.100C>T
ENST00000494443.5:n.174C>T
NM_000117.2:c.117C>T , LRG_745t1:c.117C>T	NP_000108.1:p.Phe39=
XM_024452349.1:c.-92C>T	XP_024308117.1:n.-92C>T
NM_000117.3:c.117C>T MANE Select	NP_000108.1:p.Phe39=