Canonical Allele Identifier: CA386878620

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975287C>A , CM000674.2:g.115975287C>A	GRCh38
NC_000012.11:g.116413092C>A , CM000674.1:g.116413092C>A	GRCh37
NC_000012.10:g.114897475C>A	NCBI36
NG_023366.1:g.306900G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5615G>T MANE Select	ENSP00000281928.3:p.Arg1872Leu
ENST00000548694.2:n.605G>T
ENST00000648379.1:n.3983G>T
ENST00000648737.1:n.5379G>T
ENST00000648825.1:n.3800G>T
ENST00000648916.1:n.3626G>T
ENST00000649607.1:c.3799G>T
ENST00000649775.1:c.2104G>T
ENST00000650226.1:c.5651G>T	ENSP00000496981.1:p.Arg1884Leu
ENST00000281928.7:c.5615G>T	ENSP00000281928.3:p.Arg1872Leu
ENST00000548694.1:n.605G>T
ENST00000552447.1:c.228G>T
NM_015335.4:c.5615G>T	NP_056150.1:p.Arg1872Leu
XM_011538080.1:c.5651G>T	XP_011536382.1:p.Arg1884Leu
XM_011538081.1:c.5648G>T	XP_011536383.1:p.Arg1883Leu
XM_011538082.1:c.5621G>T	XP_011536384.1:p.Arg1874Leu
XM_011538080.2:c.5651G>T	XP_011536382.1:p.Arg1884Leu
XM_011538081.2:c.5648G>T	XP_011536383.1:p.Arg1883Leu
XM_011538082.2:c.5621G>T	XP_011536384.1:p.Arg1874Leu
XM_017019090.1:c.5612G>T	XP_016874579.1:p.Arg1871Leu
NM_015335.5:c.5615G>T MANE Select	NP_056150.1:p.Arg1872Leu