Canonical Allele Identifier: CA2065371354
Gene: MED13L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115982413C= , CM000674.2:g.115982413C= GRCh38
NC_000012.11:g.116420218C= , CM000674.1:g.116420218C= GRCh37
NC_000012.10:g.114904601C= NCBI36
NG_023366.1:g.299774G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.5146G= MANE Select ENSP00000281928.3:p.Glu1716=
ENST00000549786.2:c.4574G=
ENST00000648379.1:n.3514G=
ENST00000648737.1:n.4910G=
ENST00000648825.1:n.1886G=
ENST00000648916.1:n.3157G=
ENST00000649146.1:n.2389G=
ENST00000649607.1:c.3330G=
ENST00000649775.1:c.1635G=
ENST00000650226.1:c.5146G= ENSP00000496981.1:p.Glu1716=
ENST00000281928.7:c.5146G= ENSP00000281928.3:p.Glu1716=
ENST00000549786.1:c.510G=
ENST00000552340.1:c.178G= ENSP00000449876.1:p.Glu60=
NM_015335.4:c.5146G= NP_056150.1:p.Glu1716=
XM_011538080.1:c.5146G= XP_011536382.1:p.Glu1716=
XM_011538081.1:c.5143G= XP_011536383.1:p.Glu1715=
XM_011538082.1:c.5116G= XP_011536384.1:p.Glu1706=
XM_011538080.2:c.5146G= XP_011536382.1:p.Glu1716=
XM_011538081.2:c.5143G= XP_011536383.1:p.Glu1715=
XM_011538082.2:c.5116G= XP_011536384.1:p.Glu1706=
XM_017019090.1:c.5143G= XP_016874579.1:p.Glu1715=
NM_015335.5:c.5146G= MANE Select NP_056150.1:p.Glu1716=