Canonical Allele Identifier: CA415257688

Gene: EMD

Linked Data

• COSMIC: COSM5468120
• MyVariant Identifiers: chrX:g.153608347A>T (hg19) ; chrX:g.154379987A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379987A>T , CM000685.2:g.154379987A>T	GRCh38
NC_000023.10:g.153608347A>T , CM000685.1:g.153608347A>T	GRCh37
NC_000023.9:g.153261541A>T	NCBI36
NG_008677.1:g.10552A>T , LRG_745:g.10552A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.233A>T	ENSP00000507245.1:p.Lys78Met
ENST00000682478.1:n.209A>T
ENST00000683576.1:n.209A>T
ENST00000683627.1:c.233A>T	ENSP00000507533.1:p.Lys78Met
ENST00000684082.1:c.233A>T	ENSP00000508266.1:p.Lys78Met
ENST00000684633.1:n.205A>T
ENST00000684678.1:c.229A>T	ENSP00000507059.1:n.229A>T
ENST00000369842.9:c.233A>T MANE Select	ENSP00000358857.4:p.Lys78Met
ENST00000369835.3:c.128A>T	ENSP00000358850.3:p.Lys43Met
ENST00000369842.8:c.233A>T	ENSP00000358857.4:p.Lys78Met
ENST00000428228.5:c.*138A>T	ENSP00000401081.1:n.*138A>T
ENST00000468294.5:n.193A>T
ENST00000485261.1:n.209A>T
ENST00000486738.5:n.377A>T
ENST00000492448.1:n.216A>T
ENST00000494443.5:n.290A>T
NM_000117.2:c.233A>T , LRG_745t1:c.233A>T	NP_000108.1:p.Lys78Met
XM_024452349.1:c.25A>T	XP_024308117.1:p.Arg9Ter
NM_000117.3:c.233A>T MANE Select	NP_000108.1:p.Lys78Met