Canonical Allele Identifier: CA481941649

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115963472C>A , CM000674.2:g.115963472C>A	GRCh38
NC_000012.11:g.116401277C>A , CM000674.1:g.116401277C>A	GRCh37
NC_000012.10:g.114885660C>A	NCBI36
NG_023366.1:g.318715G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.6435G>T MANE Select	ENSP00000281928.3:p.Leu2145=
ENST00000548784.2:n.2649G>T
ENST00000648379.1:n.4803G>T
ENST00000648737.1:n.6199G>T
ENST00000648762.1:n.1125G>T
ENST00000648825.1:n.4620G>T
ENST00000648916.1:n.4446G>T
ENST00000649607.1:c.4619G>T
ENST00000649775.1:c.2766G>T
ENST00000649937.1:n.78G>T
ENST00000650226.1:c.6471G>T	ENSP00000496981.1:p.Leu2157=
ENST00000281928.7:c.6435G>T	ENSP00000281928.3:p.Leu2145=
NM_015335.4:c.6435G>T	NP_056150.1:p.Leu2145=
XM_011538080.1:c.6471G>T	XP_011536382.1:p.Leu2157=
XM_011538081.1:c.6468G>T	XP_011536383.1:p.Leu2156=
XM_011538082.1:c.6441G>T	XP_011536384.1:p.Leu2147=
XM_011538080.2:c.6471G>T	XP_011536382.1:p.Leu2157=
XM_011538081.2:c.6468G>T	XP_011536383.1:p.Leu2156=
XM_011538082.2:c.6441G>T	XP_011536384.1:p.Leu2147=
XM_017019090.1:c.6432G>T	XP_016874579.1:p.Leu2144=
NM_015335.5:c.6435G>T MANE Select	NP_056150.1:p.Leu2145=