Canonical Allele Identifier: CA415257762

Gene: EMD

Linked Data

• dbSNP Id: rs2067877636
• gnomAD v4: X-154380017-A-G
• MyVariant Identifiers: chrX:g.153608377A>G (hg19) ; chrX:g.154380017A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380017A>G , CM000685.2:g.154380017A>G	GRCh38
NC_000023.10:g.153608377A>G , CM000685.1:g.153608377A>G	GRCh37
NC_000023.9:g.153261571A>G	NCBI36
NG_008677.1:g.10582A>G , LRG_745:g.10582A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.263A>G	ENSP00000507245.1:p.Lys88Arg
ENST00000682478.1:n.239A>G
ENST00000683576.1:n.239A>G
ENST00000683627.1:c.263A>G	ENSP00000507533.1:p.Lys88Arg
ENST00000684082.1:c.263A>G	ENSP00000508266.1:p.Lys88Arg
ENST00000684633.1:n.235A>G
ENST00000684678.1:c.259A>G	ENSP00000507059.1:n.259A>G
ENST00000369842.9:c.263A>G MANE Select	ENSP00000358857.4:p.Lys88Arg
ENST00000369835.3:c.158A>G	ENSP00000358850.3:p.Lys53Arg
ENST00000369842.8:c.263A>G	ENSP00000358857.4:p.Lys88Arg
ENST00000428228.5:c.*168A>G	ENSP00000401081.1:n.*168A>G
ENST00000468294.5:n.223A>G
ENST00000485261.1:n.239A>G
ENST00000486738.5:n.407A>G
ENST00000492448.1:n.246A>G
ENST00000494443.5:n.320A>G
NM_000117.2:c.263A>G , LRG_745t1:c.263A>G	NP_000108.1:p.Lys88Arg
XM_024452349.1:c.55A>G	XP_024308117.1:p.Arg19Gly
NM_000117.3:c.263A>G MANE Select	NP_000108.1:p.Lys88Arg