Canonical Allele Identifier: CA2065371388

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982428G= , CM000674.2:g.115982428G=	GRCh38
NC_000012.11:g.116420233G= , CM000674.1:g.116420233G=	GRCh37
NC_000012.10:g.114904616G=	NCBI36
NG_023366.1:g.299759C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5131C= MANE Select	ENSP00000281928.3:p.Leu1711=
ENST00000549786.2:c.4559C=
ENST00000648379.1:n.3499C=
ENST00000648737.1:n.4895C=
ENST00000648825.1:n.1871C=
ENST00000648916.1:n.3142C=
ENST00000649146.1:n.2374C=
ENST00000649607.1:c.3315C=
ENST00000649775.1:c.1620C=
ENST00000650226.1:c.5131C=	ENSP00000496981.1:p.Leu1711=
ENST00000281928.7:c.5131C=	ENSP00000281928.3:p.Leu1711=
ENST00000549786.1:c.495C=
ENST00000552340.1:c.163C=	ENSP00000449876.1:p.Leu55=
NM_015335.4:c.5131C=	NP_056150.1:p.Leu1711=
XM_011538080.1:c.5131C=	XP_011536382.1:p.Leu1711=
XM_011538081.1:c.5128C=	XP_011536383.1:p.Leu1710=
XM_011538082.1:c.5101C=	XP_011536384.1:p.Leu1701=
XM_011538080.2:c.5131C=	XP_011536382.1:p.Leu1711=
XM_011538081.2:c.5128C=	XP_011536383.1:p.Leu1710=
XM_011538082.2:c.5101C=	XP_011536384.1:p.Leu1701=
XM_017019090.1:c.5128C=	XP_016874579.1:p.Leu1710=
NM_015335.5:c.5131C= MANE Select	NP_056150.1:p.Leu1711=