Canonical Allele Identifier: CA481947849

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116422070C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984265C>T , CM000674.2:g.115984265C>T	GRCh38
NC_000012.11:g.116422070C>T , CM000674.1:g.116422070C>T	GRCh37
NC_000012.10:g.114906453C>T	NCBI36
NG_023366.1:g.297922G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.4446G>A MANE Select	ENSP00000281928.3:p.Glu1482=
ENST00000549786.2:c.3874G>A
ENST00000648379.1:n.2814G>A
ENST00000648737.1:n.4210G>A
ENST00000648825.1:n.1186G>A
ENST00000648916.1:n.2457G>A
ENST00000649146.1:n.1176G>A
ENST00000649607.1:c.2630G>A
ENST00000649775.1:c.943G>A
ENST00000650091.1:n.2422G>A
ENST00000650226.1:c.4446G>A	ENSP00000496981.1:p.Glu1482=
ENST00000281928.7:c.4446G>A	ENSP00000281928.3:p.Glu1482=
NM_015335.4:c.4446G>A	NP_056150.1:p.Glu1482=
XM_011538080.1:c.4446G>A	XP_011536382.1:p.Glu1482=
XM_011538081.1:c.4443G>A	XP_011536383.1:p.Glu1481=
XM_011538082.1:c.4416G>A	XP_011536384.1:p.Glu1472=
XM_011538080.2:c.4446G>A	XP_011536382.1:p.Glu1482=
XM_011538081.2:c.4443G>A	XP_011536383.1:p.Glu1481=
XM_011538082.2:c.4416G>A	XP_011536384.1:p.Glu1472=
XM_017019090.1:c.4443G>A	XP_016874579.1:p.Glu1481=
NM_015335.5:c.4446G>A MANE Select	NP_056150.1:p.Glu1482=