Canonical Allele Identifier: CA2065386093
Gene: MED13L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115991566T= , CM000674.2:g.115991566T= GRCh38
NC_000012.11:g.116429371T= , CM000674.1:g.116429371T= GRCh37
NC_000012.10:g.114913754T= NCBI36
NG_023366.1:g.290621A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.3388A= MANE Select ENSP00000281928.3:p.Ser1130=
ENST00000549786.2:c.2816A=
ENST00000648379.1:n.1756A=
ENST00000648737.1:n.3152A=
ENST00000648825.1:n.128A=
ENST00000648916.1:n.1399A=
ENST00000649607.1:c.1572A=
ENST00000650226.1:c.3388A= ENSP00000496981.1:p.Ser1130=
ENST00000281928.7:c.3388A= ENSP00000281928.3:p.Ser1130=
NM_015335.4:c.3388A= NP_056150.1:p.Ser1130=
XM_011538080.1:c.3388A= XP_011536382.1:p.Ser1130=
XM_011538081.1:c.3385A= XP_011536383.1:p.Ser1129=
XM_011538082.1:c.3358A= XP_011536384.1:p.Ser1120=
XM_011538080.2:c.3388A= XP_011536382.1:p.Ser1130=
XM_011538081.2:c.3385A= XP_011536383.1:p.Ser1129=
XM_011538082.2:c.3358A= XP_011536384.1:p.Ser1120=
XM_017019090.1:c.3385A= XP_016874579.1:p.Ser1129=
NM_015335.5:c.3388A= MANE Select NP_056150.1:p.Ser1130=