Canonical Allele Identifier: CA2065371788
Gene: MED13L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115982567C= , CM000674.2:g.115982567C= GRCh38
NC_000012.11:g.116420372C= , CM000674.1:g.116420372C= GRCh37
NC_000012.10:g.114904755C= NCBI36
NG_023366.1:g.299620G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.4992G= MANE Select ENSP00000281928.3:p.Glu1664=
ENST00000549786.2:c.4420G=
ENST00000648379.1:n.3360G=
ENST00000648737.1:n.4756G=
ENST00000648825.1:n.1732G=
ENST00000648916.1:n.3003G=
ENST00000649146.1:n.2235G=
ENST00000649607.1:c.3176G=
ENST00000649775.1:c.1481G=
ENST00000650226.1:c.4992G= ENSP00000496981.1:p.Glu1664=
ENST00000281928.7:c.4992G= ENSP00000281928.3:p.Glu1664=
ENST00000549786.1:c.356G=
ENST00000552340.1:c.24G= ENSP00000449876.1:p.Glu8=
NM_015335.4:c.4992G= NP_056150.1:p.Glu1664=
XM_011538080.1:c.4992G= XP_011536382.1:p.Glu1664=
XM_011538081.1:c.4989G= XP_011536383.1:p.Glu1663=
XM_011538082.1:c.4962G= XP_011536384.1:p.Glu1654=
XM_011538080.2:c.4992G= XP_011536382.1:p.Glu1664=
XM_011538081.2:c.4989G= XP_011536383.1:p.Glu1663=
XM_011538082.2:c.4962G= XP_011536384.1:p.Glu1654=
XM_017019090.1:c.4989G= XP_016874579.1:p.Glu1663=
NM_015335.5:c.4992G= MANE Select NP_056150.1:p.Glu1664=