Canonical Allele Identifier: CA2065385857

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991404A= , CM000674.2:g.115991404A=	GRCh38
NC_000012.11:g.116429209A= , CM000674.1:g.116429209A=	GRCh37
NC_000012.10:g.114913592A=	NCBI36
NG_023366.1:g.290783T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3550T= MANE Select	ENSP00000281928.3:p.Leu1184=
ENST00000549786.2:c.2978T=
ENST00000648379.1:n.1918T=
ENST00000648737.1:n.3314T=
ENST00000648825.1:n.290T=
ENST00000648916.1:n.1561T=
ENST00000649607.1:c.1734T=
ENST00000649775.1:c.47T=
ENST00000650226.1:c.3550T=	ENSP00000496981.1:p.Leu1184=
ENST00000281928.7:c.3550T=	ENSP00000281928.3:p.Leu1184=
NM_015335.4:c.3550T=	NP_056150.1:p.Leu1184=
XM_011538080.1:c.3550T=	XP_011536382.1:p.Leu1184=
XM_011538081.1:c.3547T=	XP_011536383.1:p.Leu1183=
XM_011538082.1:c.3520T=	XP_011536384.1:p.Leu1174=
XM_011538080.2:c.3550T=	XP_011536382.1:p.Leu1184=
XM_011538081.2:c.3547T=	XP_011536383.1:p.Leu1183=
XM_011538082.2:c.3520T=	XP_011536384.1:p.Leu1174=
XM_017019090.1:c.3547T=	XP_016874579.1:p.Leu1183=
NM_015335.5:c.3550T= MANE Select	NP_056150.1:p.Leu1184=