Canonical Allele Identifier: CA386877172

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115972171G>A , CM000674.2:g.115972171G>A	GRCh38
NC_000012.11:g.116409976G>A , CM000674.1:g.116409976G>A	GRCh37
NC_000012.10:g.114894359G>A	NCBI36
NG_023366.1:g.310016C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5797C>T MANE Select	ENSP00000281928.3:p.Arg1933Trp
ENST00000548694.2:n.787C>T
ENST00000548784.2:n.2011C>T
ENST00000648379.1:n.4165C>T
ENST00000648737.1:n.5561C>T
ENST00000648825.1:n.3982C>T
ENST00000648916.1:n.3808C>T
ENST00000649607.1:c.3981C>T
ENST00000649775.1:c.2286C>T
ENST00000650226.1:c.5833C>T	ENSP00000496981.1:p.Arg1945Trp
ENST00000281928.7:c.5797C>T	ENSP00000281928.3:p.Arg1933Trp
ENST00000548694.1:n.787C>T
ENST00000548784.1:n.295C>T
ENST00000552447.1:c.410C>T
NM_015335.4:c.5797C>T	NP_056150.1:p.Arg1933Trp
XM_011538080.1:c.5833C>T	XP_011536382.1:p.Arg1945Trp
XM_011538081.1:c.5830C>T	XP_011536383.1:p.Arg1944Trp
XM_011538082.1:c.5803C>T	XP_011536384.1:p.Arg1935Trp
XM_011538080.2:c.5833C>T	XP_011536382.1:p.Arg1945Trp
XM_011538081.2:c.5830C>T	XP_011536383.1:p.Arg1944Trp
XM_011538082.2:c.5803C>T	XP_011536384.1:p.Arg1935Trp
XM_017019090.1:c.5794C>T	XP_016874579.1:p.Arg1932Trp
NM_015335.5:c.5797C>T MANE Select	NP_056150.1:p.Arg1933Trp