Canonical Allele Identifier: CA386883844
Gene: MED13L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115984365C>G , CM000674.2:g.115984365C>G GRCh38
NC_000012.11:g.116422170C>G , CM000674.1:g.116422170C>G GRCh37
NC_000012.10:g.114906553C>G NCBI36
NG_023366.1:g.297822G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.4346G>C MANE Select ENSP00000281928.3:p.Arg1449Thr
ENST00000549786.2:c.3774G>C
ENST00000648379.1:n.2714G>C
ENST00000648737.1:n.4110G>C
ENST00000648825.1:n.1086G>C
ENST00000648916.1:n.2357G>C
ENST00000649146.1:n.1076G>C
ENST00000649607.1:c.2530G>C
ENST00000649775.1:c.843G>C
ENST00000650091.1:n.2322G>C
ENST00000650226.1:c.4346G>C ENSP00000496981.1:p.Arg1449Thr
ENST00000281928.7:c.4346G>C ENSP00000281928.3:p.Arg1449Thr
NM_015335.4:c.4346G>C NP_056150.1:p.Arg1449Thr
XM_011538080.1:c.4346G>C XP_011536382.1:p.Arg1449Thr
XM_011538081.1:c.4343G>C XP_011536383.1:p.Arg1448Thr
XM_011538082.1:c.4316G>C XP_011536384.1:p.Arg1439Thr
XM_011538080.2:c.4346G>C XP_011536382.1:p.Arg1449Thr
XM_011538081.2:c.4343G>C XP_011536383.1:p.Arg1448Thr
XM_011538082.2:c.4316G>C XP_011536384.1:p.Arg1439Thr
XM_017019090.1:c.4343G>C XP_016874579.1:p.Arg1448Thr
NM_015335.5:c.4346G>C MANE Select NP_056150.1:p.Arg1449Thr