Canonical Allele Identifier: CA519277869

Gene: EMD

Linked Data

• ClinVar Variation Id: 1573931
• ClinVar RCV Id: RCV002080360
• dbSNP Id: rs2148128131
• MyVariant Identifiers: chrX:g.153608081C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379721C>A , CM000685.2:g.154379721C>A	GRCh38
NC_000023.10:g.153608081C>A , CM000685.1:g.153608081C>A	GRCh37
NC_000023.9:g.153261275C>A	NCBI36
NG_008677.1:g.10286C>A , LRG_745:g.10286C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.114C>A	ENSP00000507245.1:p.Ile38=
ENST00000682478.1:n.90C>A
ENST00000683576.1:n.90C>A
ENST00000683627.1:c.114C>A	ENSP00000507533.1:p.Ile38=
ENST00000684082.1:c.114C>A	ENSP00000508266.1:p.Ile38=
ENST00000684633.1:n.86C>A
ENST00000684678.1:c.110C>A	ENSP00000507059.1:p.Ser37Tyr
ENST00000369842.9:c.114C>A MANE Select	ENSP00000358857.4:p.Ile38=
ENST00000369835.3:c.82+155C>A	ENSP00000358850.3:n.82+155C>A
ENST00000369842.8:c.114C>A	ENSP00000358857.4:p.Ile38=
ENST00000428228.5:c.*19C>A	ENSP00000401081.1:n.*19C>A
ENST00000468294.5:n.74C>A
ENST00000485261.1:n.163+155C>A
ENST00000486738.5:n.258C>A
ENST00000492448.1:n.97C>A
ENST00000494443.5:n.171C>A
NM_000117.2:c.114C>A , LRG_745t1:c.114C>A	NP_000108.1:p.Ile38=
XM_024452349.1:c.-95C>A	XP_024308117.1:n.-95C>A
NM_000117.3:c.114C>A MANE Select	NP_000108.1:p.Ile38=