Canonical Allele Identifier: CA386881045

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420218C>G (hg19) ; chr12:g.115982413C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982413C>G , CM000674.2:g.115982413C>G	GRCh38
NC_000012.11:g.116420218C>G , CM000674.1:g.116420218C>G	GRCh37
NC_000012.10:g.114904601C>G	NCBI36
NG_023366.1:g.299774G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5146G>C MANE Select	ENSP00000281928.3:p.Glu1716Gln
ENST00000549786.2:c.4574G>C
ENST00000648379.1:n.3514G>C
ENST00000648737.1:n.4910G>C
ENST00000648825.1:n.1886G>C
ENST00000648916.1:n.3157G>C
ENST00000649146.1:n.2389G>C
ENST00000649607.1:c.3330G>C
ENST00000649775.1:c.1635G>C
ENST00000650226.1:c.5146G>C	ENSP00000496981.1:p.Glu1716Gln
ENST00000281928.7:c.5146G>C	ENSP00000281928.3:p.Glu1716Gln
ENST00000549786.1:c.510G>C
ENST00000552340.1:c.178G>C	ENSP00000449876.1:p.Glu60Gln
NM_015335.4:c.5146G>C	NP_056150.1:p.Glu1716Gln
XM_011538080.1:c.5146G>C	XP_011536382.1:p.Glu1716Gln
XM_011538081.1:c.5143G>C	XP_011536383.1:p.Glu1715Gln
XM_011538082.1:c.5116G>C	XP_011536384.1:p.Glu1706Gln
XM_011538080.2:c.5146G>C	XP_011536382.1:p.Glu1716Gln
XM_011538081.2:c.5143G>C	XP_011536383.1:p.Glu1715Gln
XM_011538082.2:c.5116G>C	XP_011536384.1:p.Glu1706Gln
XM_017019090.1:c.5143G>C	XP_016874579.1:p.Glu1715Gln
NM_015335.5:c.5146G>C MANE Select	NP_056150.1:p.Glu1716Gln