Canonical Allele Identifier: CA2065387112
Gene: MED13L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115991931G= , CM000674.2:g.115991931G= GRCh38
NC_000012.11:g.116429736G= , CM000674.1:g.116429736G= GRCh37
NC_000012.10:g.114914119G= NCBI36
NG_023366.1:g.290256C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.3023C= MANE Select ENSP00000281928.3:p.Ala1008=
ENST00000548743.2:c.2993C= ENSP00000448553.2:p.Ala998=
ENST00000549786.2:c.2451C=
ENST00000648173.1:n.1818C=
ENST00000648379.1:n.1391C=
ENST00000648737.1:n.2787C=
ENST00000648916.1:n.1034C=
ENST00000649607.1:c.1207C=
ENST00000650226.1:c.3023C= ENSP00000496981.1:p.Ala1008=
ENST00000281928.7:c.3023C= ENSP00000281928.3:p.Ala1008=
NM_015335.4:c.3023C= NP_056150.1:p.Ala1008=
XM_011538080.1:c.3023C= XP_011536382.1:p.Ala1008=
XM_011538081.1:c.3020C= XP_011536383.1:p.Ala1007=
XM_011538082.1:c.2993C= XP_011536384.1:p.Ala998=
XM_011538080.2:c.3023C= XP_011536382.1:p.Ala1008=
XM_011538081.2:c.3020C= XP_011536383.1:p.Ala1007=
XM_011538082.2:c.2993C= XP_011536384.1:p.Ala998=
XM_017019090.1:c.3020C= XP_016874579.1:p.Ala1007=
NM_015335.5:c.3023C= MANE Select NP_056150.1:p.Ala1008=