Canonical Allele Identifier: CA519277905

Gene: EMD

Linked Data

• ClinVar Variation Id: 1773544
• ClinVar RCV Id: RCV002397118
• dbSNP Id: rs2067875354
• gnomAD v3: X-154379754-G-T
• gnomAD v4: X-154379754-G-T
• MyVariant Identifiers: chrX:g.153608114G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379754G>T , CM000685.2:g.154379754G>T	GRCh38
NC_000023.10:g.153608114G>T , CM000685.1:g.153608114G>T	GRCh37
NC_000023.9:g.153261308G>T	NCBI36
NG_008677.1:g.10319G>T , LRG_745:g.10319G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.147G>T	ENSP00000507245.1:p.Ser49=
ENST00000682478.1:n.123G>T
ENST00000683576.1:n.123G>T
ENST00000683627.1:c.147G>T	ENSP00000507533.1:p.Ser49=
ENST00000684082.1:c.147G>T	ENSP00000508266.1:p.Ser49=
ENST00000684633.1:n.119G>T
ENST00000684678.1:c.143G>T	ENSP00000507059.1:p.Arg48Leu
ENST00000369842.9:c.147G>T MANE Select	ENSP00000358857.4:p.Ser49=
ENST00000369835.3:c.83-188G>T	ENSP00000358850.3:n.83-188G>T
ENST00000369842.8:c.147G>T	ENSP00000358857.4:p.Ser49=
ENST00000428228.5:c.*52G>T	ENSP00000401081.1:n.*52G>T
ENST00000468294.5:n.107G>T
ENST00000485261.1:n.164-188G>T
ENST00000486738.5:n.291G>T
ENST00000492448.1:n.130G>T
ENST00000494443.5:n.204G>T
NM_000117.2:c.147G>T , LRG_745t1:c.147G>T	NP_000108.1:p.Ser49=
XM_024452349.1:c.-62G>T	XP_024308117.1:n.-62G>T
NM_000117.3:c.147G>T MANE Select	NP_000108.1:p.Ser49=