Canonical Allele Identifier: CA6810566

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975540C>T , CM000674.2:g.115975540C>T	GRCh38
NC_000012.11:g.116413345C>T , CM000674.1:g.116413345C>T	GRCh37
NC_000012.10:g.114897728C>T	NCBI36
NG_023366.1:g.306647G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5563G>A MANE Select	ENSP00000281928.3:p.Val1855Ile
ENST00000548694.2:n.352G>A
ENST00000648379.1:n.3931G>A
ENST00000648737.1:n.5327G>A
ENST00000648825.1:n.3748G>A
ENST00000648916.1:n.3574G>A
ENST00000649607.1:c.3747G>A
ENST00000649775.1:c.2052G>A
ENST00000650226.1:c.5563G>A	ENSP00000496981.1:p.Val1855Ile
ENST00000281928.7:c.5563G>A	ENSP00000281928.3:p.Val1855Ile
ENST00000548694.1:n.352G>A
ENST00000552447.1:c.140G>A
NM_015335.4:c.5563G>A	NP_056150.1:p.Val1855Ile
XM_011538080.1:c.5563G>A	XP_011536382.1:p.Val1855Ile
XM_011538081.1:c.5560G>A	XP_011536383.1:p.Val1854Ile
XM_011538082.1:c.5533G>A	XP_011536384.1:p.Val1845Ile
XM_011538080.2:c.5563G>A	XP_011536382.1:p.Val1855Ile
XM_011538081.2:c.5560G>A	XP_011536383.1:p.Val1854Ile
XM_011538082.2:c.5533G>A	XP_011536384.1:p.Val1845Ile
XM_017019090.1:c.5560G>A	XP_016874579.1:p.Val1854Ile
NM_015335.5:c.5563G>A MANE Select	NP_056150.1:p.Val1855Ile