Canonical Allele Identifier: CA386881418

Gene: MED13L

Linked Data

• gnomAD v4: 12-115982569-C-T
• MyVariant Identifiers: chr12:g.116420374C>T (hg19) ; chr12:g.115982569C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982569C>T , CM000674.2:g.115982569C>T	GRCh38
NC_000012.11:g.116420374C>T , CM000674.1:g.116420374C>T	GRCh37
NC_000012.10:g.114904757C>T	NCBI36
NG_023366.1:g.299618G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4990G>A MANE Select	ENSP00000281928.3:p.Glu1664Lys
ENST00000549786.2:c.4418G>A
ENST00000648379.1:n.3358G>A
ENST00000648737.1:n.4754G>A
ENST00000648825.1:n.1730G>A
ENST00000648916.1:n.3001G>A
ENST00000649146.1:n.2233G>A
ENST00000649607.1:c.3174G>A
ENST00000649775.1:c.1479G>A
ENST00000650226.1:c.4990G>A	ENSP00000496981.1:p.Glu1664Lys
ENST00000281928.7:c.4990G>A	ENSP00000281928.3:p.Glu1664Lys
ENST00000549786.1:c.354G>A
ENST00000552340.1:c.22G>A	ENSP00000449876.1:p.Glu8Lys
NM_015335.4:c.4990G>A	NP_056150.1:p.Glu1664Lys
XM_011538080.1:c.4990G>A	XP_011536382.1:p.Glu1664Lys
XM_011538081.1:c.4987G>A	XP_011536383.1:p.Glu1663Lys
XM_011538082.1:c.4960G>A	XP_011536384.1:p.Glu1654Lys
XM_011538080.2:c.4990G>A	XP_011536382.1:p.Glu1664Lys
XM_011538081.2:c.4987G>A	XP_011536383.1:p.Glu1663Lys
XM_011538082.2:c.4960G>A	XP_011536384.1:p.Glu1654Lys
XM_017019090.1:c.4987G>A	XP_016874579.1:p.Glu1663Lys
NM_015335.5:c.4990G>A MANE Select	NP_056150.1:p.Glu1664Lys