Canonical Allele Identifier: CA352024

Gene: EMD

Linked Data

• ClinVar Variation Id: 222597
• ClinVar RCV Id: RCV000208426 ; RCV003522948
• dbSNP Id: rs869025400
• MyVariant Identifiers: chrX:g.153607867C>G (hg19) ; chrX:g.154379507C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379507C>G , CM000685.2:g.154379507C>G	GRCh38
NC_000023.10:g.153607867C>G , CM000685.1:g.153607867C>G	GRCh37
NC_000023.9:g.153261061C>G	NCBI36
NG_008677.1:g.10072C>G , LRG_745:g.10072C>G
NG_011506.1:g.140G>C
NG_011506.2:g.132G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.23C>G	ENSP00000507245.1:p.Ser8Trp
ENST00000683627.1:c.23C>G	ENSP00000507533.1:p.Ser8Trp
ENST00000684082.1:c.23C>G	ENSP00000508266.1:p.Ser8Trp
ENST00000684678.1:c.23C>G	ENSP00000507059.1:p.Ser8Trp
ENST00000369842.9:c.23C>G MANE Select	ENSP00000358857.4:p.Ser8Trp
ENST00000369835.3:c.23C>G	ENSP00000358850.3:p.Ser8Trp
ENST00000369842.8:c.23C>G	ENSP00000358857.4:p.Ser8Trp
ENST00000428228.5:c.23C>G	ENSP00000401081.1:p.Ser8Trp
ENST00000485261.1:n.104C>G
ENST00000486738.5:n.167C>G
ENST00000494443.5:n.80C>G
NM_000117.2:c.23C>G , LRG_745t1:c.23C>G	NP_000108.1:p.Ser8Trp
XM_024452349.1:c.-186C>G	XP_024308117.1:n.-186C>G
NM_000117.3:c.23C>G MANE Select	NP_000108.1:p.Ser8Trp