Canonical Allele Identifier: CA2065381563
Gene: MED13L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.116012875A= , CM000674.2:g.116012875A= GRCh38
NC_000012.11:g.116450680A= , CM000674.1:g.116450680A= GRCh37
NC_000012.10:g.114935063A= NCBI36
NG_023366.1:g.269312T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.1202T= MANE Select ENSP00000281928.3:p.Leu401=
ENST00000548743.2:c.1172T= ENSP00000448553.2:p.Leu391=
ENST00000549786.2:c.630T=
ENST00000647567.1:c.1109T= ENSP00000497136.1:p.Leu370=
ENST00000648737.1:n.966T=
ENST00000650226.1:c.1202T= ENSP00000496981.1:p.Leu401=
ENST00000281928.7:c.1202T= ENSP00000281928.3:p.Leu401=
NM_015335.4:c.1202T= NP_056150.1:p.Leu401=
XM_011538080.1:c.1202T= XP_011536382.1:p.Leu401=
XM_011538081.1:c.1202T= XP_011536383.1:p.Leu401=
XM_011538082.1:c.1172T= XP_011536384.1:p.Leu391=
XM_011538080.2:c.1202T= XP_011536382.1:p.Leu401=
XM_011538081.2:c.1202T= XP_011536383.1:p.Leu401=
XM_011538082.2:c.1172T= XP_011536384.1:p.Leu391=
XM_017019090.1:c.1202T= XP_016874579.1:p.Leu401=
NM_015335.5:c.1202T= MANE Select NP_056150.1:p.Leu401=