Canonical Allele Identifier: CA2065386009
Gene: MED13L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115991485G= , CM000674.2:g.115991485G= GRCh38
NC_000012.11:g.116429290G= , CM000674.1:g.116429290G= GRCh37
NC_000012.10:g.114913673G= NCBI36
NG_023366.1:g.290702C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.3469C= MANE Select ENSP00000281928.3:p.Gln1157=
ENST00000549786.2:c.2897C=
ENST00000648379.1:n.1837C=
ENST00000648737.1:n.3233C=
ENST00000648825.1:n.209C=
ENST00000648916.1:n.1480C=
ENST00000649607.1:c.1653C=
ENST00000650226.1:c.3469C= ENSP00000496981.1:p.Gln1157=
ENST00000281928.7:c.3469C= ENSP00000281928.3:p.Gln1157=
NM_015335.4:c.3469C= NP_056150.1:p.Gln1157=
XM_011538080.1:c.3469C= XP_011536382.1:p.Gln1157=
XM_011538081.1:c.3466C= XP_011536383.1:p.Gln1156=
XM_011538082.1:c.3439C= XP_011536384.1:p.Gln1147=
XM_011538080.2:c.3469C= XP_011536382.1:p.Gln1157=
XM_011538081.2:c.3466C= XP_011536383.1:p.Gln1156=
XM_011538082.2:c.3439C= XP_011536384.1:p.Gln1147=
XM_017019090.1:c.3466C= XP_016874579.1:p.Gln1156=
NM_015335.5:c.3469C= MANE Select NP_056150.1:p.Gln1157=