Canonical Allele Identifier: CA415257763

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153608377A>T (hg19) ; chrX:g.154380017A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.263A>T	ENSP00000507245.1:p.Lys88Met
ENST00000682478.1:n.239A>T
ENST00000683576.1:n.239A>T
ENST00000683627.1:c.263A>T	ENSP00000507533.1:p.Lys88Met
ENST00000684082.1:c.263A>T	ENSP00000508266.1:p.Lys88Met
ENST00000684633.1:n.235A>T
ENST00000684678.1:c.259A>T	ENSP00000507059.1:n.259A>T
ENST00000369842.9:c.263A>T MANE Select	ENSP00000358857.4:p.Lys88Met
ENST00000369835.3:c.158A>T	ENSP00000358850.3:p.Lys53Met
ENST00000369842.8:c.263A>T	ENSP00000358857.4:p.Lys88Met
ENST00000428228.5:c.*168A>T	ENSP00000401081.1:n.*168A>T
ENST00000468294.5:n.223A>T
ENST00000485261.1:n.239A>T
ENST00000486738.5:n.407A>T
ENST00000492448.1:n.246A>T
ENST00000494443.5:n.320A>T
NM_000117.2:c.263A>T , LRG_745t1:c.263A>T	NP_000108.1:p.Lys88Met
XM_024452349.1:c.55A>T	XP_024308117.1:p.Arg19Trp
NM_000117.3:c.263A>T MANE Select	NP_000108.1:p.Lys88Met