Canonical Allele Identifier: CA2065371425
Gene: MED13L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115982444G= , CM000674.2:g.115982444G= GRCh38
NC_000012.11:g.116420249G= , CM000674.1:g.116420249G= GRCh37
NC_000012.10:g.114904632G= NCBI36
NG_023366.1:g.299743C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.5115C= MANE Select ENSP00000281928.3:p.Arg1705=
ENST00000549786.2:c.4543C=
ENST00000648379.1:n.3483C=
ENST00000648737.1:n.4879C=
ENST00000648825.1:n.1855C=
ENST00000648916.1:n.3126C=
ENST00000649146.1:n.2358C=
ENST00000649607.1:c.3299C=
ENST00000649775.1:c.1604C=
ENST00000650226.1:c.5115C= ENSP00000496981.1:p.Arg1705=
ENST00000281928.7:c.5115C= ENSP00000281928.3:p.Arg1705=
ENST00000549786.1:c.479C=
ENST00000552340.1:c.147C= ENSP00000449876.1:p.Arg49=
NM_015335.4:c.5115C= NP_056150.1:p.Arg1705=
XM_011538080.1:c.5115C= XP_011536382.1:p.Arg1705=
XM_011538081.1:c.5112C= XP_011536383.1:p.Arg1704=
XM_011538082.1:c.5085C= XP_011536384.1:p.Arg1695=
XM_011538080.2:c.5115C= XP_011536382.1:p.Arg1705=
XM_011538081.2:c.5112C= XP_011536383.1:p.Arg1704=
XM_011538082.2:c.5085C= XP_011536384.1:p.Arg1695=
XM_017019090.1:c.5112C= XP_016874579.1:p.Arg1704=
NM_015335.5:c.5115C= MANE Select NP_056150.1:p.Arg1705=