Canonical Allele Identifier: CA415257384

Gene: EMD

Linked Data

• ClinVar Variation Id: 1934330
• ClinVar RCV Id: RCV002631865
• MyVariant Identifiers: chrX:g.153608077A>G (hg19) ; chrX:g.154379717A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379717A>G , CM000685.2:g.154379717A>G	GRCh38
NC_000023.10:g.153608077A>G , CM000685.1:g.153608077A>G	GRCh37
NC_000023.9:g.153261271A>G	NCBI36
NG_008677.1:g.10282A>G , LRG_745:g.10282A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.110A>G	ENSP00000507245.1:p.Lys37Arg
ENST00000682478.1:n.86A>G
ENST00000683576.1:n.86A>G
ENST00000683627.1:c.110A>G	ENSP00000507533.1:p.Lys37Arg
ENST00000684082.1:c.110A>G	ENSP00000508266.1:p.Lys37Arg
ENST00000684633.1:n.82A>G
ENST00000684678.1:c.106A>G	ENSP00000507059.1:p.Arg36Gly
ENST00000369842.9:c.110A>G MANE Select	ENSP00000358857.4:p.Lys37Arg
ENST00000369835.3:c.82+151A>G	ENSP00000358850.3:n.82+151A>G
ENST00000369842.8:c.110A>G	ENSP00000358857.4:p.Lys37Arg
ENST00000428228.5:c.*15A>G	ENSP00000401081.1:n.*15A>G
ENST00000468294.5:n.70A>G
ENST00000485261.1:n.163+151A>G
ENST00000486738.5:n.254A>G
ENST00000492448.1:n.93A>G
ENST00000494443.5:n.167A>G
NM_000117.2:c.110A>G , LRG_745t1:c.110A>G	NP_000108.1:p.Lys37Arg
XM_024452349.1:c.-99A>G	XP_024308117.1:n.-99A>G
NM_000117.3:c.110A>G MANE Select	NP_000108.1:p.Lys37Arg