Canonical Allele Identifier: CA386881042

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420217T>C (hg19) ; chr12:g.115982412T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982412T>C , CM000674.2:g.115982412T>C	GRCh38
NC_000012.11:g.116420217T>C , CM000674.1:g.116420217T>C	GRCh37
NC_000012.10:g.114904600T>C	NCBI36
NG_023366.1:g.299775A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5147A>G MANE Select	ENSP00000281928.3:p.Glu1716Gly
ENST00000549786.2:c.4575A>G
ENST00000648379.1:n.3515A>G
ENST00000648737.1:n.4911A>G
ENST00000648825.1:n.1887A>G
ENST00000648916.1:n.3158A>G
ENST00000649146.1:n.2390A>G
ENST00000649607.1:c.3331A>G
ENST00000649775.1:c.1636A>G
ENST00000650226.1:c.5147A>G	ENSP00000496981.1:p.Glu1716Gly
ENST00000281928.7:c.5147A>G	ENSP00000281928.3:p.Glu1716Gly
ENST00000549786.1:c.511A>G
ENST00000552340.1:c.179A>G	ENSP00000449876.1:p.Glu60Gly
NM_015335.4:c.5147A>G	NP_056150.1:p.Glu1716Gly
XM_011538080.1:c.5147A>G	XP_011536382.1:p.Glu1716Gly
XM_011538081.1:c.5144A>G	XP_011536383.1:p.Glu1715Gly
XM_011538082.1:c.5117A>G	XP_011536384.1:p.Glu1706Gly
XM_011538080.2:c.5147A>G	XP_011536382.1:p.Glu1716Gly
XM_011538081.2:c.5144A>G	XP_011536383.1:p.Glu1715Gly
XM_011538082.2:c.5117A>G	XP_011536384.1:p.Glu1706Gly
XM_017019090.1:c.5144A>G	XP_016874579.1:p.Glu1715Gly
NM_015335.5:c.5147A>G MANE Select	NP_056150.1:p.Glu1716Gly