Canonical Allele Identifier: CA645171839

Gene: EMD

Linked Data

• ClinVar Variation Id: 1081477
• ClinVar RCV Id: RCV001397447
• dbSNP Id: rs1422586674
• gnomAD v2: X-153607935-C-T
• gnomAD v3: X-154379575-C-T
• gnomAD v4: X-154379575-C-T
• MyVariant Identifiers: chrX:g.153607935C>T (hg19) ; chrX:g.154379575C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379575C>T , CM000685.2:g.154379575C>T	GRCh38
NC_000023.10:g.153607935C>T , CM000685.1:g.153607935C>T	GRCh37
NC_000023.9:g.153261129C>T	NCBI36
NG_008677.1:g.10140C>T , LRG_745:g.10140C>T
NG_011506.1:g.72G>A
NG_011506.2:g.64G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.82+9C>T	ENSP00000507245.1:n.82+9C>T
ENST00000682478.1:n.58+9C>T
ENST00000683576.1:n.58+9C>T
ENST00000683627.1:c.82+9C>T	ENSP00000507533.1:n.82+9C>T
ENST00000684082.1:c.82+9C>T	ENSP00000508266.1:n.82+9C>T
ENST00000684633.1:n.54+13C>T
ENST00000684678.1:c.78+13C>T	ENSP00000507059.1:n.78+13C>T
ENST00000369842.9:c.82+9C>T MANE Select	ENSP00000358857.4:n.82+9C>T
ENST00000369835.3:c.82+9C>T	ENSP00000358850.3:n.82+9C>T
ENST00000369842.8:c.82+9C>T	ENSP00000358857.4:n.82+9C>T
ENST00000428228.5:c.53+38C>T	ENSP00000401081.1:n.53+38C>T
ENST00000468294.5:n.42+9C>T
ENST00000485261.1:n.163+9C>T
ENST00000486738.5:n.226+9C>T
ENST00000494443.5:n.139+9C>T
NM_000117.2:c.82+9C>T , LRG_745t1:c.82+9C>T	NP_000108.1:n.82+9C>T
XM_024452349.1:c.-127+9C>T	XP_024308117.1:n.-127+9C>T
NM_000117.3:c.82+9C>T MANE Select	NP_000108.1:n.82+9C>T