Canonical Allele Identifier: CA386881041

Gene: MED13L

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5147A>T MANE Select	ENSP00000281928.3:p.Glu1716Val
ENST00000549786.2:c.4575A>T
ENST00000648379.1:n.3515A>T
ENST00000648737.1:n.4911A>T
ENST00000648825.1:n.1887A>T
ENST00000648916.1:n.3158A>T
ENST00000649146.1:n.2390A>T
ENST00000649607.1:c.3331A>T
ENST00000649775.1:c.1636A>T
ENST00000650226.1:c.5147A>T	ENSP00000496981.1:p.Glu1716Val
ENST00000281928.7:c.5147A>T	ENSP00000281928.3:p.Glu1716Val
ENST00000549786.1:c.511A>T
ENST00000552340.1:c.179A>T	ENSP00000449876.1:p.Glu60Val
NM_015335.4:c.5147A>T	NP_056150.1:p.Glu1716Val
XM_011538080.1:c.5147A>T	XP_011536382.1:p.Glu1716Val
XM_011538081.1:c.5144A>T	XP_011536383.1:p.Glu1715Val
XM_011538082.1:c.5117A>T	XP_011536384.1:p.Glu1706Val
XM_011538080.2:c.5147A>T	XP_011536382.1:p.Glu1716Val
XM_011538081.2:c.5144A>T	XP_011536383.1:p.Glu1715Val
XM_011538082.2:c.5117A>T	XP_011536384.1:p.Glu1706Val
XM_017019090.1:c.5144A>T	XP_016874579.1:p.Glu1715Val
NM_015335.5:c.5147A>T MANE Select	NP_056150.1:p.Glu1716Val