Canonical Allele Identifier: CA386890813
Gene: MED13L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115997178A>C , CM000674.2:g.115997178A>C GRCh38
NC_000012.11:g.116434983A>C , CM000674.1:g.116434983A>C GRCh37
NC_000012.10:g.114919366A>C NCBI36
NG_023366.1:g.285009T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.2622T>G MANE Select ENSP00000281928.3:p.His874Gln
ENST00000548743.2:c.2592T>G ENSP00000448553.2:p.His864Gln
ENST00000549786.2:c.2050T>G
ENST00000647927.1:n.2995T>G
ENST00000648173.1:n.1417T>G
ENST00000648379.1:n.990T>G
ENST00000648737.1:n.2386T>G
ENST00000648916.1:n.633T>G
ENST00000649607.1:c.806T>G
ENST00000650226.1:c.2622T>G ENSP00000496981.1:p.His874Gln
ENST00000281928.7:c.2622T>G ENSP00000281928.3:p.His874Gln
NM_015335.4:c.2622T>G NP_056150.1:p.His874Gln
XM_011538080.1:c.2622T>G XP_011536382.1:p.His874Gln
XM_011538081.1:c.2619T>G XP_011536383.1:p.His873Gln
XM_011538082.1:c.2592T>G XP_011536384.1:p.His864Gln
XM_011538080.2:c.2622T>G XP_011536382.1:p.His874Gln
XM_011538081.2:c.2619T>G XP_011536383.1:p.His873Gln
XM_011538082.2:c.2592T>G XP_011536384.1:p.His864Gln
XM_017019090.1:c.2619T>G XP_016874579.1:p.His873Gln
NM_015335.5:c.2622T>G MANE Select NP_056150.1:p.His874Gln