Canonical Allele Identifier: CA415258458
Gene: EMD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154380896A>G , CM000685.2:g.154380896A>G GRCh38
NC_000023.10:g.153609256A>G , CM000685.1:g.153609256A>G GRCh37
NC_000023.9:g.153262450A>G NCBI36
NG_008677.1:g.11461A>G , LRG_745:g.11461A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682114.1:c.464A>G ENSP00000507245.1:p.Tyr155Cys
ENST00000682478.1:n.654A>G
ENST00000683576.1:n.654A>G
ENST00000683627.1:c.464A>G ENSP00000507533.1:p.Tyr155Cys
ENST00000684082.1:c.421A>G ENSP00000508266.1:n.421A>G
ENST00000684633.1:n.436A>G
ENST00000684678.1:c.460A>G ENSP00000507059.1:n.460A>G
ENST00000369842.9:c.464A>G MANE Select ENSP00000358857.4:p.Tyr155Cys
ENST00000369835.3:c.359A>G ENSP00000358850.3:p.Tyr120Cys
ENST00000369842.8:c.464A>G ENSP00000358857.4:p.Tyr155Cys
ENST00000428228.5:c.*369A>G ENSP00000401081.1:n.*369A>G
ENST00000471965.1:n.253A>G
ENST00000485261.1:n.733A>G
ENST00000486738.5:n.901A>G
ENST00000492448.1:n.447A>G
NM_000117.2:c.464A>G , LRG_745t1:c.464A>G NP_000108.1:p.Tyr155Cys
XM_024452349.1:c.470A>G XP_024308117.1:p.Tyr157Cys
NM_000117.3:c.464A>G MANE Select NP_000108.1:p.Tyr155Cys