Canonical Allele Identifier: CA2065386220
Gene: MED13L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115991609G= , CM000674.2:g.115991609G= GRCh38
NC_000012.11:g.116429414G= , CM000674.1:g.116429414G= GRCh37
NC_000012.10:g.114913797G= NCBI36
NG_023366.1:g.290578C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.3345C= MANE Select ENSP00000281928.3:p.Leu1115=
ENST00000549786.2:c.2773C=
ENST00000648379.1:n.1713C=
ENST00000648737.1:n.3109C=
ENST00000648825.1:n.85C=
ENST00000648916.1:n.1356C=
ENST00000649607.1:c.1529C=
ENST00000650226.1:c.3345C= ENSP00000496981.1:p.Leu1115=
ENST00000281928.7:c.3345C= ENSP00000281928.3:p.Leu1115=
NM_015335.4:c.3345C= NP_056150.1:p.Leu1115=
XM_011538080.1:c.3345C= XP_011536382.1:p.Leu1115=
XM_011538081.1:c.3342C= XP_011536383.1:p.Leu1114=
XM_011538082.1:c.3315C= XP_011536384.1:p.Leu1105=
XM_011538080.2:c.3345C= XP_011536382.1:p.Leu1115=
XM_011538081.2:c.3342C= XP_011536383.1:p.Leu1114=
XM_011538082.2:c.3315C= XP_011536384.1:p.Leu1105=
XM_017019090.1:c.3342C= XP_016874579.1:p.Leu1114=
NM_015335.5:c.3345C= MANE Select NP_056150.1:p.Leu1115=