Canonical Allele Identifier: CA6810542

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975308C>T , CM000674.2:g.115975308C>T	GRCh38
NC_000012.11:g.116413113C>T , CM000674.1:g.116413113C>T	GRCh37
NC_000012.10:g.114897496C>T	NCBI36
NG_023366.1:g.306879G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5594G>A MANE Select	ENSP00000281928.3:p.Arg1865Gln
ENST00000548694.2:n.584G>A
ENST00000648379.1:n.3962G>A
ENST00000648737.1:n.5358G>A
ENST00000648825.1:n.3779G>A
ENST00000648916.1:n.3605G>A
ENST00000649607.1:c.3778G>A
ENST00000649775.1:c.2083G>A
ENST00000650226.1:c.5630G>A	ENSP00000496981.1:p.Arg1877Gln
ENST00000281928.7:c.5594G>A	ENSP00000281928.3:p.Arg1865Gln
ENST00000548694.1:n.584G>A
ENST00000552447.1:c.207G>A
NM_015335.4:c.5594G>A	NP_056150.1:p.Arg1865Gln
XM_011538080.1:c.5630G>A	XP_011536382.1:p.Arg1877Gln
XM_011538081.1:c.5627G>A	XP_011536383.1:p.Arg1876Gln
XM_011538082.1:c.5600G>A	XP_011536384.1:p.Arg1867Gln
XM_011538080.2:c.5630G>A	XP_011536382.1:p.Arg1877Gln
XM_011538081.2:c.5627G>A	XP_011536383.1:p.Arg1876Gln
XM_011538082.2:c.5600G>A	XP_011536384.1:p.Arg1867Gln
XM_017019090.1:c.5591G>A	XP_016874579.1:p.Arg1864Gln
NM_015335.5:c.5594G>A MANE Select	NP_056150.1:p.Arg1865Gln