Canonical Allele Identifier: CA2739392290

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975323A>T , CM000674.2:g.115975323A>T	GRCh38
NC_000012.11:g.116413128A>T , CM000674.1:g.116413128A>T	GRCh37
NC_000012.10:g.114897511A>T	NCBI36
NG_023366.1:g.306864T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5589-10T>A MANE Select	ENSP00000281928.3:n.5589-10T>A
ENST00000548694.2:n.569T>A
ENST00000648379.1:n.3957-10T>A
ENST00000648737.1:n.5353-10T>A
ENST00000648825.1:n.3774-10T>A
ENST00000648916.1:n.3600-10T>A
ENST00000649607.1:c.3773-10T>A
ENST00000649775.1:c.2078-10T>A
ENST00000650226.1:c.5615T>A	ENSP00000496981.1:p.Leu1872Ter
ENST00000281928.7:c.5589-10T>A	ENSP00000281928.3:n.5589-10T>A
ENST00000548694.1:n.569T>A
ENST00000552447.1:c.192T>A
NM_015335.4:c.5589-10T>A	NP_056150.1:n.5589-10T>A
XM_011538080.1:c.5615T>A	XP_011536382.1:p.Leu1872Ter
XM_011538081.1:c.5612T>A	XP_011536383.1:p.Leu1871Ter
XM_011538082.1:c.5585T>A	XP_011536384.1:p.Leu1862Ter
XM_011538080.2:c.5615T>A	XP_011536382.1:p.Leu1872Ter
XM_011538081.2:c.5612T>A	XP_011536383.1:p.Leu1871Ter
XM_011538082.2:c.5585T>A	XP_011536384.1:p.Leu1862Ter
XM_017019090.1:c.5586-10T>A	XP_016874579.1:n.5586-10T>A
NM_015335.5:c.5589-10T>A MANE Select	NP_056150.1:n.5589-10T>A