Canonical Allele Identifier: CA2065371477
Gene: MED13L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115982464A= , CM000674.2:g.115982464A= GRCh38
NC_000012.11:g.116420269A= , CM000674.1:g.116420269A= GRCh37
NC_000012.10:g.114904652A= NCBI36
NG_023366.1:g.299723T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.5095T= MANE Select ENSP00000281928.3:p.Trp1699=
ENST00000549786.2:c.4523T=
ENST00000648379.1:n.3463T=
ENST00000648737.1:n.4859T=
ENST00000648825.1:n.1835T=
ENST00000648916.1:n.3106T=
ENST00000649146.1:n.2338T=
ENST00000649607.1:c.3279T=
ENST00000649775.1:c.1584T=
ENST00000650226.1:c.5095T= ENSP00000496981.1:p.Trp1699=
ENST00000281928.7:c.5095T= ENSP00000281928.3:p.Trp1699=
ENST00000549786.1:c.459T=
ENST00000552340.1:c.127T= ENSP00000449876.1:p.Trp43=
NM_015335.4:c.5095T= NP_056150.1:p.Trp1699=
XM_011538080.1:c.5095T= XP_011536382.1:p.Trp1699=
XM_011538081.1:c.5092T= XP_011536383.1:p.Trp1698=
XM_011538082.1:c.5065T= XP_011536384.1:p.Trp1689=
XM_011538080.2:c.5095T= XP_011536382.1:p.Trp1699=
XM_011538081.2:c.5092T= XP_011536383.1:p.Trp1698=
XM_011538082.2:c.5065T= XP_011536384.1:p.Trp1689=
XM_017019090.1:c.5092T= XP_016874579.1:p.Trp1698=
NM_015335.5:c.5095T= MANE Select NP_056150.1:p.Trp1699=