Canonical Allele Identifier: CA337289054

Gene: EMD

Linked Data

• ClinVar Variation Id: 2845271
• ClinVar RCV Id: RCV003640169
• dbSNP Id: rs910093145
• gnomAD v4: X-154379694-A-G
• MyVariant Identifiers: chrX:g.153608054A>G (hg19) ; chrX:g.154379694A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379694A>G , CM000685.2:g.154379694A>G	GRCh38
NC_000023.10:g.153608054A>G , CM000685.1:g.153608054A>G	GRCh37
NC_000023.9:g.153261248A>G	NCBI36
NG_008677.1:g.10259A>G , LRG_745:g.10259A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.87A>G	ENSP00000507245.1:p.Ser29=
ENST00000682478.1:n.63A>G
ENST00000683576.1:n.63A>G
ENST00000683627.1:c.87A>G	ENSP00000507533.1:p.Ser29=
ENST00000684082.1:c.87A>G	ENSP00000508266.1:p.Ser29=
ENST00000684633.1:n.59A>G
ENST00000684678.1:c.83A>G	ENSP00000507059.1:p.Gln28Arg
ENST00000369842.9:c.87A>G MANE Select	ENSP00000358857.4:p.Ser29=
ENST00000369835.3:c.82+128A>G	ENSP00000358850.3:n.82+128A>G
ENST00000369842.8:c.87A>G	ENSP00000358857.4:p.Ser29=
ENST00000428228.5:c.58A>G	ENSP00000401081.1:p.Asn20Asp
ENST00000468294.5:n.47A>G
ENST00000485261.1:n.163+128A>G
ENST00000486738.5:n.231A>G
ENST00000492448.1:n.70A>G
ENST00000494443.5:n.144A>G
NM_000117.2:c.87A>G , LRG_745t1:c.87A>G	NP_000108.1:p.Ser29=
XM_024452349.1:c.-122A>G	XP_024308117.1:n.-122A>G
NM_000117.3:c.87A>G MANE Select	NP_000108.1:p.Ser29=