Canonical Allele Identifier: CA386883077

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115983379T>G , CM000674.2:g.115983379T>G	GRCh38
NC_000012.11:g.116421184T>G , CM000674.1:g.116421184T>G	GRCh37
NC_000012.10:g.114905567T>G	NCBI36
NG_023366.1:g.298808A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4693A>C MANE Select	ENSP00000281928.3:p.Thr1565Pro
ENST00000549786.2:c.4121A>C
ENST00000648379.1:n.3061A>C
ENST00000648737.1:n.4457A>C
ENST00000648825.1:n.1433A>C
ENST00000648916.1:n.2704A>C
ENST00000649146.1:n.1423A>C
ENST00000649607.1:c.2877A>C
ENST00000649775.1:c.1190A>C
ENST00000650226.1:c.4693A>C	ENSP00000496981.1:p.Thr1565Pro
ENST00000281928.7:c.4693A>C	ENSP00000281928.3:p.Thr1565Pro
ENST00000549786.1:c.57A>C
NM_015335.4:c.4693A>C	NP_056150.1:p.Thr1565Pro
XM_011538080.1:c.4693A>C	XP_011536382.1:p.Thr1565Pro
XM_011538081.1:c.4690A>C	XP_011536383.1:p.Thr1564Pro
XM_011538082.1:c.4663A>C	XP_011536384.1:p.Thr1555Pro
XM_011538080.2:c.4693A>C	XP_011536382.1:p.Thr1565Pro
XM_011538081.2:c.4690A>C	XP_011536383.1:p.Thr1564Pro
XM_011538082.2:c.4663A>C	XP_011536384.1:p.Thr1555Pro
XM_017019090.1:c.4690A>C	XP_016874579.1:p.Thr1564Pro
NM_015335.5:c.4693A>C MANE Select	NP_056150.1:p.Thr1565Pro