Canonical Allele Identifier: CA2065398616

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116022487G= , CM000674.2:g.116022487G=	GRCh38
NC_000012.11:g.116460292G= , CM000674.1:g.116460292G=	GRCh37
NC_000012.10:g.114944675G=	NCBI36
NG_023366.1:g.259700C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.594C= MANE Select	ENSP00000281928.3:p.His198=
ENST00000548743.2:c.564C=	ENSP00000448553.2:p.His188=
ENST00000549786.2:c.22C=
ENST00000647567.1:c.504C=	ENSP00000497136.1:p.His168=
ENST00000648737.1:n.358C=
ENST00000650226.1:c.594C=	ENSP00000496981.1:p.His198=
ENST00000281928.7:c.594C=	ENSP00000281928.3:p.His198=
NM_015335.4:c.594C=	NP_056150.1:p.His198=
XM_011538080.1:c.594C=	XP_011536382.1:p.His198=
XM_011538081.1:c.594C=	XP_011536383.1:p.His198=
XM_011538082.1:c.564C=	XP_011536384.1:p.His188=
XM_011538080.2:c.594C=	XP_011536382.1:p.His198=
XM_011538081.2:c.594C=	XP_011536383.1:p.His198=
XM_011538082.2:c.564C=	XP_011536384.1:p.His188=
XM_017019090.1:c.594C=	XP_016874579.1:p.His198=
NM_015335.5:c.594C= MANE Select	NP_056150.1:p.His198=