Canonical Allele Identifier: CA519277911

Gene: EMD

Linked Data

• ClinVar Variation Id: 765764
• ClinVar RCV Id: RCV001476499
• dbSNP Id: rs782051850
• gnomAD v4: X-154379760-C-T
• MyVariant Identifiers: chrX:g.153608120C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379760C>T , CM000685.2:g.154379760C>T	GRCh38
NC_000023.10:g.153608120C>T , CM000685.1:g.153608120C>T	GRCh37
NC_000023.9:g.153261314C>T	NCBI36
NG_008677.1:g.10325C>T , LRG_745:g.10325C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.153C>T	ENSP00000507245.1:p.Pro51=
ENST00000682478.1:n.129C>T
ENST00000683576.1:n.129C>T
ENST00000683627.1:c.153C>T	ENSP00000507533.1:p.Pro51=
ENST00000684082.1:c.153C>T	ENSP00000508266.1:p.Pro51=
ENST00000684633.1:n.125C>T
ENST00000684678.1:c.149C>T	ENSP00000507059.1:p.Pro50Leu
ENST00000369842.9:c.153C>T MANE Select	ENSP00000358857.4:p.Pro51=
ENST00000369835.3:c.83-182C>T	ENSP00000358850.3:n.83-182C>T
ENST00000369842.8:c.153C>T	ENSP00000358857.4:p.Pro51=
ENST00000428228.5:c.*58C>T	ENSP00000401081.1:n.*58C>T
ENST00000468294.5:n.113C>T
ENST00000485261.1:n.164-182C>T
ENST00000486738.5:n.297C>T
ENST00000492448.1:n.136C>T
ENST00000494443.5:n.210C>T
NM_000117.2:c.153C>T , LRG_745t1:c.153C>T	NP_000108.1:p.Pro51=
XM_024452349.1:c.-56C>T	XP_024308117.1:n.-56C>T
NM_000117.3:c.153C>T MANE Select	NP_000108.1:p.Pro51=