Canonical Allele Identifier: CA2065371471

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982459C= , CM000674.2:g.115982459C=	GRCh38
NC_000012.11:g.116420264C= , CM000674.1:g.116420264C=	GRCh37
NC_000012.10:g.114904647C=	NCBI36
NG_023366.1:g.299728G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5100G= MANE Select	ENSP00000281928.3:p.Leu1700=
ENST00000549786.2:c.4528G=
ENST00000648379.1:n.3468G=
ENST00000648737.1:n.4864G=
ENST00000648825.1:n.1840G=
ENST00000648916.1:n.3111G=
ENST00000649146.1:n.2343G=
ENST00000649607.1:c.3284G=
ENST00000649775.1:c.1589G=
ENST00000650226.1:c.5100G=	ENSP00000496981.1:p.Leu1700=
ENST00000281928.7:c.5100G=	ENSP00000281928.3:p.Leu1700=
ENST00000549786.1:c.464G=
ENST00000552340.1:c.132G=	ENSP00000449876.1:p.Leu44=
NM_015335.4:c.5100G=	NP_056150.1:p.Leu1700=
XM_011538080.1:c.5100G=	XP_011536382.1:p.Leu1700=
XM_011538081.1:c.5097G=	XP_011536383.1:p.Leu1699=
XM_011538082.1:c.5070G=	XP_011536384.1:p.Leu1690=
XM_011538080.2:c.5100G=	XP_011536382.1:p.Leu1700=
XM_011538081.2:c.5097G=	XP_011536383.1:p.Leu1699=
XM_011538082.2:c.5070G=	XP_011536384.1:p.Leu1690=
XM_017019090.1:c.5097G=	XP_016874579.1:p.Leu1699=
NM_015335.5:c.5100G= MANE Select	NP_056150.1:p.Leu1700=