Canonical Allele Identifier: CA2065371347
Gene: MED13L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115982408A= , CM000674.2:g.115982408A= GRCh38
NC_000012.11:g.116420213A= , CM000674.1:g.116420213A= GRCh37
NC_000012.10:g.114904596A= NCBI36
NG_023366.1:g.299779T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.5151T= MANE Select ENSP00000281928.3:p.His1717=
ENST00000549786.2:c.4579T=
ENST00000648379.1:n.3519T=
ENST00000648737.1:n.4915T=
ENST00000648825.1:n.1891T=
ENST00000648916.1:n.3162T=
ENST00000649146.1:n.2394T=
ENST00000649607.1:c.3335T=
ENST00000649775.1:c.1640T=
ENST00000650226.1:c.5151T= ENSP00000496981.1:p.His1717=
ENST00000281928.7:c.5151T= ENSP00000281928.3:p.His1717=
ENST00000549786.1:c.515T=
ENST00000552340.1:c.183T= ENSP00000449876.1:p.His61=
NM_015335.4:c.5151T= NP_056150.1:p.His1717=
XM_011538080.1:c.5151T= XP_011536382.1:p.His1717=
XM_011538081.1:c.5148T= XP_011536383.1:p.His1716=
XM_011538082.1:c.5121T= XP_011536384.1:p.His1707=
XM_011538080.2:c.5151T= XP_011536382.1:p.His1717=
XM_011538081.2:c.5148T= XP_011536383.1:p.His1716=
XM_011538082.2:c.5121T= XP_011536384.1:p.His1707=
XM_017019090.1:c.5148T= XP_016874579.1:p.His1716=
NM_015335.5:c.5151T= MANE Select NP_056150.1:p.His1717=