Canonical Allele Identifier: CA415257613
Gene: EMD HGNC NCBI

Linked Data

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