Canonical Allele Identifier: CA2065365233

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116003042G= , CM000674.2:g.116003042G=	GRCh38
NC_000012.11:g.116440847G= , CM000674.1:g.116440847G=	GRCh37
NC_000012.10:g.114925230G=	NCBI36
NG_023366.1:g.279145C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2530C= MANE Select	ENSP00000281928.3:p.Leu844=
ENST00000548743.2:c.2500C=	ENSP00000448553.2:p.Leu834=
ENST00000549786.2:c.1958C=
ENST00000648173.1:n.1325C=
ENST00000648379.1:n.898C=
ENST00000648737.1:n.2294C=
ENST00000648916.1:n.541C=
ENST00000649607.1:c.717C=
ENST00000650226.1:c.2530C=	ENSP00000496981.1:p.Leu844=
ENST00000281928.7:c.2530C=	ENSP00000281928.3:p.Leu844=
NM_015335.4:c.2530C=	NP_056150.1:p.Leu844=
XM_011538080.1:c.2530C=	XP_011536382.1:p.Leu844=
XM_011538081.1:c.2530C=	XP_011536383.1:p.Leu844=
XM_011538082.1:c.2500C=	XP_011536384.1:p.Leu834=
XM_011538080.2:c.2530C=	XP_011536382.1:p.Leu844=
XM_011538081.2:c.2530C=	XP_011536383.1:p.Leu844=
XM_011538082.2:c.2500C=	XP_011536384.1:p.Leu834=
XM_017019090.1:c.2530C=	XP_016874579.1:p.Leu844=
NM_015335.5:c.2530C= MANE Select	NP_056150.1:p.Leu844=