Canonical Allele Identifier: CA2065386944

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991884A= , CM000674.2:g.115991884A=	GRCh38
NC_000012.11:g.116429689A= , CM000674.1:g.116429689A=	GRCh37
NC_000012.10:g.114914072A=	NCBI36
NG_023366.1:g.290303T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3070T= MANE Select	ENSP00000281928.3:p.Leu1024=
ENST00000548743.2:c.3040T=	ENSP00000448553.2:p.Leu1014=
ENST00000549786.2:c.2498T=
ENST00000648173.1:n.1865T=
ENST00000648379.1:n.1438T=
ENST00000648737.1:n.2834T=
ENST00000648916.1:n.1081T=
ENST00000649607.1:c.1254T=
ENST00000650226.1:c.3070T=	ENSP00000496981.1:p.Leu1024=
ENST00000281928.7:c.3070T=	ENSP00000281928.3:p.Leu1024=
NM_015335.4:c.3070T=	NP_056150.1:p.Leu1024=
XM_011538080.1:c.3070T=	XP_011536382.1:p.Leu1024=
XM_011538081.1:c.3067T=	XP_011536383.1:p.Leu1023=
XM_011538082.1:c.3040T=	XP_011536384.1:p.Leu1014=
XM_011538080.2:c.3070T=	XP_011536382.1:p.Leu1024=
XM_011538081.2:c.3067T=	XP_011536383.1:p.Leu1023=
XM_011538082.2:c.3040T=	XP_011536384.1:p.Leu1014=
XM_017019090.1:c.3067T=	XP_016874579.1:p.Leu1023=
NM_015335.5:c.3070T= MANE Select	NP_056150.1:p.Leu1024=