Canonical Allele Identifier: CA415257613

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153608314C>T (hg19) ; chrX:g.154379954C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379954C>T , CM000685.2:g.154379954C>T	GRCh38
NC_000023.10:g.153608314C>T , CM000685.1:g.153608314C>T	GRCh37
NC_000023.9:g.153261508C>T	NCBI36
NG_008677.1:g.10519C>T , LRG_745:g.10519C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.200C>T	ENSP00000507245.1:p.Thr67Ile
ENST00000682478.1:n.176C>T
ENST00000683576.1:n.176C>T
ENST00000683627.1:c.200C>T	ENSP00000507533.1:p.Thr67Ile
ENST00000684082.1:c.200C>T	ENSP00000508266.1:p.Thr67Ile
ENST00000684633.1:n.172C>T
ENST00000684678.1:c.196C>T	ENSP00000507059.1:n.196C>T
ENST00000369842.9:c.200C>T MANE Select	ENSP00000358857.4:p.Thr67Ile
ENST00000369835.3:c.95C>T	ENSP00000358850.3:p.Thr32Ile
ENST00000369842.8:c.200C>T	ENSP00000358857.4:p.Thr67Ile
ENST00000428228.5:c.*105C>T	ENSP00000401081.1:n.*105C>T
ENST00000468294.5:n.160C>T
ENST00000485261.1:n.176C>T
ENST00000486738.5:n.344C>T
ENST00000492448.1:n.183C>T
ENST00000494443.5:n.257C>T
NM_000117.2:c.200C>T , LRG_745t1:c.200C>T	NP_000108.1:p.Thr67Ile
XM_024452349.1:c.-9C>T	XP_024308117.1:n.-9C>T
NM_000117.3:c.200C>T MANE Select	NP_000108.1:p.Thr67Ile