Canonical Allele Identifier: CA415257067

Gene: EMD

Linked Data

• ClinVar Variation Id: 2001617
• ClinVar RCV Id: RCV002815586
• gnomAD v4: X-154379543-A-G
• MyVariant Identifiers: chrX:g.153607903A>G (hg19) ; chrX:g.154379543A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379543A>G , CM000685.2:g.154379543A>G	GRCh38
NC_000023.10:g.153607903A>G , CM000685.1:g.153607903A>G	GRCh37
NC_000023.9:g.153261097A>G	NCBI36
NG_008677.1:g.10108A>G , LRG_745:g.10108A>G
NG_011506.1:g.104T>C
NG_011506.2:g.96T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.59A>G	ENSP00000507245.1:p.Asn20Ser
ENST00000682478.1:n.35A>G
ENST00000683576.1:n.35A>G
ENST00000683627.1:c.59A>G	ENSP00000507533.1:p.Asn20Ser
ENST00000684082.1:c.59A>G	ENSP00000508266.1:p.Asn20Ser
ENST00000684633.1:n.35A>G
ENST00000684678.1:c.59A>G	ENSP00000507059.1:p.Asn20Ser
ENST00000369842.9:c.59A>G MANE Select	ENSP00000358857.4:p.Asn20Ser
ENST00000369835.3:c.59A>G	ENSP00000358850.3:p.Asn20Ser
ENST00000369842.8:c.59A>G	ENSP00000358857.4:p.Asn20Ser
ENST00000428228.5:c.53+6A>G	ENSP00000401081.1:n.53+6A>G
ENST00000468294.5:n.19A>G
ENST00000485261.1:n.140A>G
ENST00000486738.5:n.203A>G
ENST00000494443.5:n.116A>G
NM_000117.2:c.59A>G , LRG_745t1:c.59A>G	NP_000108.1:p.Asn20Ser
XM_024452349.1:c.-150A>G	XP_024308117.1:n.-150A>G
NM_000117.3:c.59A>G MANE Select	NP_000108.1:p.Asn20Ser