Canonical Allele Identifier: CA2065371676
Gene: MED13L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115982540G= , CM000674.2:g.115982540G= GRCh38
NC_000012.11:g.116420345G= , CM000674.1:g.116420345G= GRCh37
NC_000012.10:g.114904728G= NCBI36
NG_023366.1:g.299647C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.5019C= MANE Select ENSP00000281928.3:p.His1673=
ENST00000549786.2:c.4447C=
ENST00000648379.1:n.3387C=
ENST00000648737.1:n.4783C=
ENST00000648825.1:n.1759C=
ENST00000648916.1:n.3030C=
ENST00000649146.1:n.2262C=
ENST00000649607.1:c.3203C=
ENST00000649775.1:c.1508C=
ENST00000650226.1:c.5019C= ENSP00000496981.1:p.His1673=
ENST00000281928.7:c.5019C= ENSP00000281928.3:p.His1673=
ENST00000549786.1:c.383C=
ENST00000552340.1:c.51C= ENSP00000449876.1:p.His17=
NM_015335.4:c.5019C= NP_056150.1:p.His1673=
XM_011538080.1:c.5019C= XP_011536382.1:p.His1673=
XM_011538081.1:c.5016C= XP_011536383.1:p.His1672=
XM_011538082.1:c.4989C= XP_011536384.1:p.His1663=
XM_011538080.2:c.5019C= XP_011536382.1:p.His1673=
XM_011538081.2:c.5016C= XP_011536383.1:p.His1672=
XM_011538082.2:c.4989C= XP_011536384.1:p.His1663=
XM_017019090.1:c.5016C= XP_016874579.1:p.His1672=
NM_015335.5:c.5019C= MANE Select NP_056150.1:p.His1673=