Canonical Allele Identifier: CA2065386271
Gene: MED13L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115991627G= , CM000674.2:g.115991627G= GRCh38
NC_000012.11:g.116429432G= , CM000674.1:g.116429432G= GRCh37
NC_000012.10:g.114913815G= NCBI36
NG_023366.1:g.290560C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.3327C= MANE Select ENSP00000281928.3:p.Leu1109=
ENST00000549786.2:c.2755C=
ENST00000648379.1:n.1695C=
ENST00000648737.1:n.3091C=
ENST00000648825.1:n.67C=
ENST00000648916.1:n.1338C=
ENST00000649607.1:c.1511C=
ENST00000650226.1:c.3327C= ENSP00000496981.1:p.Leu1109=
ENST00000281928.7:c.3327C= ENSP00000281928.3:p.Leu1109=
NM_015335.4:c.3327C= NP_056150.1:p.Leu1109=
XM_011538080.1:c.3327C= XP_011536382.1:p.Leu1109=
XM_011538081.1:c.3324C= XP_011536383.1:p.Leu1108=
XM_011538082.1:c.3297C= XP_011536384.1:p.Leu1099=
XM_011538080.2:c.3327C= XP_011536382.1:p.Leu1109=
XM_011538081.2:c.3324C= XP_011536383.1:p.Leu1108=
XM_011538082.2:c.3297C= XP_011536384.1:p.Leu1099=
XM_017019090.1:c.3324C= XP_016874579.1:p.Leu1108=
NM_015335.5:c.3327C= MANE Select NP_056150.1:p.Leu1109=