Canonical Allele Identifier: CA415257326

Gene: EMD

Linked Data

• ClinVar Variation Id: 1768245
• ClinVar RCV Id: RCV002387227
• gnomAD v4: X-154379704-C-G
• MyVariant Identifiers: chrX:g.153608064C>G (hg19) ; chrX:g.154379704C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379704C>G , CM000685.2:g.154379704C>G	GRCh38
NC_000023.10:g.153608064C>G , CM000685.1:g.153608064C>G	GRCh37
NC_000023.9:g.153261258C>G	NCBI36
NG_008677.1:g.10269C>G , LRG_745:g.10269C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.97C>G	ENSP00000507245.1:p.Leu33Val
ENST00000682478.1:n.73C>G
ENST00000683576.1:n.73C>G
ENST00000683627.1:c.97C>G	ENSP00000507533.1:p.Leu33Val
ENST00000684082.1:c.97C>G	ENSP00000508266.1:p.Leu33Val
ENST00000684633.1:n.69C>G
ENST00000684678.1:c.93C>G	ENSP00000507059.1:p.Gly31=
ENST00000369842.9:c.97C>G MANE Select	ENSP00000358857.4:p.Leu33Val
ENST00000369835.3:c.82+138C>G	ENSP00000358850.3:n.82+138C>G
ENST00000369842.8:c.97C>G	ENSP00000358857.4:p.Leu33Val
ENST00000428228.5:c.*2C>G	ENSP00000401081.1:n.*2C>G
ENST00000468294.5:n.57C>G
ENST00000485261.1:n.163+138C>G
ENST00000486738.5:n.241C>G
ENST00000492448.1:n.80C>G
ENST00000494443.5:n.154C>G
NM_000117.2:c.97C>G , LRG_745t1:c.97C>G	NP_000108.1:p.Leu33Val
XM_024452349.1:c.-112C>G	XP_024308117.1:n.-112C>G
NM_000117.3:c.97C>G MANE Select	NP_000108.1:p.Leu33Val