Canonical Allele Identifier: CA386882309
Gene: MED13L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115982594T>G , CM000674.2:g.115982594T>G GRCh38
NC_000012.11:g.116420399T>G , CM000674.1:g.116420399T>G GRCh37
NC_000012.10:g.114904782T>G NCBI36
NG_023366.1:g.299593A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.4965A>C MANE Select ENSP00000281928.3:p.Glu1655Asp
ENST00000549786.2:c.4393A>C
ENST00000648379.1:n.3333A>C
ENST00000648737.1:n.4729A>C
ENST00000648825.1:n.1705A>C
ENST00000648916.1:n.2976A>C
ENST00000649146.1:n.2208A>C
ENST00000649607.1:c.3149A>C
ENST00000649775.1:c.1454A>C
ENST00000650226.1:c.4965A>C ENSP00000496981.1:p.Glu1655Asp
ENST00000281928.7:c.4965A>C ENSP00000281928.3:p.Glu1655Asp
ENST00000549786.1:c.329A>C
NM_015335.4:c.4965A>C NP_056150.1:p.Glu1655Asp
XM_011538080.1:c.4965A>C XP_011536382.1:p.Glu1655Asp
XM_011538081.1:c.4962A>C XP_011536383.1:p.Glu1654Asp
XM_011538082.1:c.4935A>C XP_011536384.1:p.Glu1645Asp
XM_011538080.2:c.4965A>C XP_011536382.1:p.Glu1655Asp
XM_011538081.2:c.4962A>C XP_011536383.1:p.Glu1654Asp
XM_011538082.2:c.4935A>C XP_011536384.1:p.Glu1645Asp
XM_017019090.1:c.4962A>C XP_016874579.1:p.Glu1654Asp
NM_015335.5:c.4965A>C MANE Select NP_056150.1:p.Glu1655Asp