Canonical Allele Identifier: CA2065386105

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991570A= , CM000674.2:g.115991570A=	GRCh38
NC_000012.11:g.116429375A= , CM000674.1:g.116429375A=	GRCh37
NC_000012.10:g.114913758A=	NCBI36
NG_023366.1:g.290617T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3384T= MANE Select	ENSP00000281928.3:p.Phe1128=
ENST00000549786.2:c.2812T=
ENST00000648379.1:n.1752T=
ENST00000648737.1:n.3148T=
ENST00000648825.1:n.124T=
ENST00000648916.1:n.1395T=
ENST00000649607.1:c.1568T=
ENST00000650226.1:c.3384T=	ENSP00000496981.1:p.Phe1128=
ENST00000281928.7:c.3384T=	ENSP00000281928.3:p.Phe1128=
NM_015335.4:c.3384T=	NP_056150.1:p.Phe1128=
XM_011538080.1:c.3384T=	XP_011536382.1:p.Phe1128=
XM_011538081.1:c.3381T=	XP_011536383.1:p.Phe1127=
XM_011538082.1:c.3354T=	XP_011536384.1:p.Phe1118=
XM_011538080.2:c.3384T=	XP_011536382.1:p.Phe1128=
XM_011538081.2:c.3381T=	XP_011536383.1:p.Phe1127=
XM_011538082.2:c.3354T=	XP_011536384.1:p.Phe1118=
XM_017019090.1:c.3381T=	XP_016874579.1:p.Phe1127=
NM_015335.5:c.3384T= MANE Select	NP_056150.1:p.Phe1128=