Canonical Allele Identifier: CA2065371473
Gene: MED13L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115982462C= , CM000674.2:g.115982462C= GRCh38
NC_000012.11:g.116420267C= , CM000674.1:g.116420267C= GRCh37
NC_000012.10:g.114904650C= NCBI36
NG_023366.1:g.299725G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.5097G= MANE Select ENSP00000281928.3:p.Trp1699=
ENST00000549786.2:c.4525G=
ENST00000648379.1:n.3465G=
ENST00000648737.1:n.4861G=
ENST00000648825.1:n.1837G=
ENST00000648916.1:n.3108G=
ENST00000649146.1:n.2340G=
ENST00000649607.1:c.3281G=
ENST00000649775.1:c.1586G=
ENST00000650226.1:c.5097G= ENSP00000496981.1:p.Trp1699=
ENST00000281928.7:c.5097G= ENSP00000281928.3:p.Trp1699=
ENST00000549786.1:c.461G=
ENST00000552340.1:c.129G= ENSP00000449876.1:p.Trp43=
NM_015335.4:c.5097G= NP_056150.1:p.Trp1699=
XM_011538080.1:c.5097G= XP_011536382.1:p.Trp1699=
XM_011538081.1:c.5094G= XP_011536383.1:p.Trp1698=
XM_011538082.1:c.5067G= XP_011536384.1:p.Trp1689=
XM_011538080.2:c.5097G= XP_011536382.1:p.Trp1699=
XM_011538081.2:c.5094G= XP_011536383.1:p.Trp1698=
XM_011538082.2:c.5067G= XP_011536384.1:p.Trp1689=
XM_017019090.1:c.5094G= XP_016874579.1:p.Trp1698=
NM_015335.5:c.5097G= MANE Select NP_056150.1:p.Trp1699=