Canonical Allele Identifier: CA415258463
Gene: EMD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154380897C>A , CM000685.2:g.154380897C>A GRCh38
NC_000023.10:g.153609257C>A , CM000685.1:g.153609257C>A GRCh37
NC_000023.9:g.153262451C>A NCBI36
NG_008677.1:g.11462C>A , LRG_745:g.11462C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682114.1:c.465C>A ENSP00000507245.1:p.Tyr155Ter
ENST00000682478.1:n.655C>A
ENST00000683576.1:n.655C>A
ENST00000683627.1:c.465C>A ENSP00000507533.1:p.Tyr155Ter
ENST00000684082.1:c.422C>A ENSP00000508266.1:n.422C>A
ENST00000684633.1:n.437C>A
ENST00000684678.1:c.461C>A ENSP00000507059.1:n.461C>A
ENST00000369842.9:c.465C>A MANE Select ENSP00000358857.4:p.Tyr155Ter
ENST00000369835.3:c.360C>A ENSP00000358850.3:p.Tyr120Ter
ENST00000369842.8:c.465C>A ENSP00000358857.4:p.Tyr155Ter
ENST00000428228.5:c.*370C>A ENSP00000401081.1:n.*370C>A
ENST00000471965.1:n.254C>A
ENST00000485261.1:n.734C>A
ENST00000486738.5:n.902C>A
ENST00000492448.1:n.448C>A
NM_000117.2:c.465C>A , LRG_745t1:c.465C>A NP_000108.1:p.Tyr155Ter
XM_024452349.1:c.471C>A XP_024308117.1:p.Tyr157Ter
NM_000117.3:c.465C>A MANE Select NP_000108.1:p.Tyr155Ter