Canonical Allele Identifier: CA386881044

Gene: MED13L

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5146G>T MANE Select	ENSP00000281928.3:p.Glu1716Ter
ENST00000549786.2:c.4574G>T
ENST00000648379.1:n.3514G>T
ENST00000648737.1:n.4910G>T
ENST00000648825.1:n.1886G>T
ENST00000648916.1:n.3157G>T
ENST00000649146.1:n.2389G>T
ENST00000649607.1:c.3330G>T
ENST00000649775.1:c.1635G>T
ENST00000650226.1:c.5146G>T	ENSP00000496981.1:p.Glu1716Ter
ENST00000281928.7:c.5146G>T	ENSP00000281928.3:p.Glu1716Ter
ENST00000549786.1:c.510G>T
ENST00000552340.1:c.178G>T	ENSP00000449876.1:p.Glu60Ter
NM_015335.4:c.5146G>T	NP_056150.1:p.Glu1716Ter
XM_011538080.1:c.5146G>T	XP_011536382.1:p.Glu1716Ter
XM_011538081.1:c.5143G>T	XP_011536383.1:p.Glu1715Ter
XM_011538082.1:c.5116G>T	XP_011536384.1:p.Glu1706Ter
XM_011538080.2:c.5146G>T	XP_011536382.1:p.Glu1716Ter
XM_011538081.2:c.5143G>T	XP_011536383.1:p.Glu1715Ter
XM_011538082.2:c.5116G>T	XP_011536384.1:p.Glu1706Ter
XM_017019090.1:c.5143G>T	XP_016874579.1:p.Glu1715Ter
NM_015335.5:c.5146G>T MANE Select	NP_056150.1:p.Glu1716Ter