Canonical Allele Identifier: CA655019608
Gene: MED13L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115975326G>T , CM000674.2:g.115975326G>T GRCh38
NC_000012.11:g.116413131G>T , CM000674.1:g.116413131G>T GRCh37
NC_000012.10:g.114897514G>T NCBI36
NG_023366.1:g.306861C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.5589-13C>A MANE Select ENSP00000281928.3:n.5589-13C>A
ENST00000548694.2:n.566C>A
ENST00000648379.1:n.3957-13C>A
ENST00000648737.1:n.5353-13C>A
ENST00000648825.1:n.3774-13C>A
ENST00000648916.1:n.3600-13C>A
ENST00000649607.1:c.3773-13C>A
ENST00000649775.1:c.2078-13C>A
ENST00000650226.1:c.5612C>A ENSP00000496981.1:p.Ser1871Tyr
ENST00000281928.7:c.5589-13C>A ENSP00000281928.3:n.5589-13C>A
ENST00000548694.1:n.566C>A
ENST00000552447.1:c.189C>A
NM_015335.4:c.5589-13C>A NP_056150.1:n.5589-13C>A
XM_011538080.1:c.5612C>A XP_011536382.1:p.Ser1871Tyr
XM_011538081.1:c.5609C>A XP_011536383.1:p.Ser1870Tyr
XM_011538082.1:c.5582C>A XP_011536384.1:p.Ser1861Tyr
XM_011538080.2:c.5612C>A XP_011536382.1:p.Ser1871Tyr
XM_011538081.2:c.5609C>A XP_011536383.1:p.Ser1870Tyr
XM_011538082.2:c.5582C>A XP_011536384.1:p.Ser1861Tyr
XM_017019090.1:c.5586-13C>A XP_016874579.1:n.5586-13C>A
NM_015335.5:c.5589-13C>A MANE Select NP_056150.1:n.5589-13C>A