Canonical Allele Identifier: CA386881214
Gene: MED13L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115982487T>C , CM000674.2:g.115982487T>C GRCh38
NC_000012.11:g.116420292T>C , CM000674.1:g.116420292T>C GRCh37
NC_000012.10:g.114904675T>C NCBI36
NG_023366.1:g.299700A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.5072A>G MANE Select ENSP00000281928.3:p.Glu1691Gly
ENST00000549786.2:c.4500A>G
ENST00000648379.1:n.3440A>G
ENST00000648737.1:n.4836A>G
ENST00000648825.1:n.1812A>G
ENST00000648916.1:n.3083A>G
ENST00000649146.1:n.2315A>G
ENST00000649607.1:c.3256A>G
ENST00000649775.1:c.1561A>G
ENST00000650226.1:c.5072A>G ENSP00000496981.1:p.Glu1691Gly
ENST00000281928.7:c.5072A>G ENSP00000281928.3:p.Glu1691Gly
ENST00000549786.1:c.436A>G
ENST00000552340.1:c.104A>G ENSP00000449876.1:p.Glu35Gly
NM_015335.4:c.5072A>G NP_056150.1:p.Glu1691Gly
XM_011538080.1:c.5072A>G XP_011536382.1:p.Glu1691Gly
XM_011538081.1:c.5069A>G XP_011536383.1:p.Glu1690Gly
XM_011538082.1:c.5042A>G XP_011536384.1:p.Glu1681Gly
XM_011538080.2:c.5072A>G XP_011536382.1:p.Glu1691Gly
XM_011538081.2:c.5069A>G XP_011536383.1:p.Glu1690Gly
XM_011538082.2:c.5042A>G XP_011536384.1:p.Glu1681Gly
XM_017019090.1:c.5069A>G XP_016874579.1:p.Glu1690Gly
NM_015335.5:c.5072A>G MANE Select NP_056150.1:p.Glu1691Gly