Canonical Allele Identifier: CA415257461

Gene: EMD

Linked Data

• dbSNP Id: rs1557182296
• gnomAD v2: X-153608100-A-G
• gnomAD v4: X-154379740-A-G
• MyVariant Identifiers: chrX:g.153608100A>G (hg19) ; chrX:g.154379740A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379740A>G , CM000685.2:g.154379740A>G	GRCh38
NC_000023.10:g.153608100A>G , CM000685.1:g.153608100A>G	GRCh37
NC_000023.9:g.153261294A>G	NCBI36
NG_008677.1:g.10305A>G , LRG_745:g.10305A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.133A>G	ENSP00000507245.1:p.Arg45Gly
ENST00000682478.1:n.109A>G
ENST00000683576.1:n.109A>G
ENST00000683627.1:c.133A>G	ENSP00000507533.1:p.Arg45Gly
ENST00000684082.1:c.133A>G	ENSP00000508266.1:p.Arg45Gly
ENST00000684633.1:n.105A>G
ENST00000684678.1:c.129A>G	ENSP00000507059.1:p.Arg43=
ENST00000369842.9:c.133A>G MANE Select	ENSP00000358857.4:p.Arg45Gly
ENST00000369835.3:c.82+174A>G	ENSP00000358850.3:n.82+174A>G
ENST00000369842.8:c.133A>G	ENSP00000358857.4:p.Arg45Gly
ENST00000428228.5:c.*38A>G	ENSP00000401081.1:n.*38A>G
ENST00000468294.5:n.93A>G
ENST00000485261.1:n.163+174A>G
ENST00000486738.5:n.277A>G
ENST00000492448.1:n.116A>G
ENST00000494443.5:n.190A>G
NM_000117.2:c.133A>G , LRG_745t1:c.133A>G	NP_000108.1:p.Arg45Gly
XM_024452349.1:c.-76A>G	XP_024308117.1:n.-76A>G
NM_000117.3:c.133A>G MANE Select	NP_000108.1:p.Arg45Gly