Canonical Allele Identifier: CA2739392339
Gene: MED13L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115982358T>G , CM000674.2:g.115982358T>G GRCh38
NC_000012.11:g.116420163T>G , CM000674.1:g.116420163T>G GRCh37
NC_000012.10:g.114904546T>G NCBI36
NG_023366.1:g.299829A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.5175+26A>C MANE Select ENSP00000281928.3:n.5175+26A>C
ENST00000549786.2:c.4629A>C
ENST00000648379.1:n.3543+26A>C
ENST00000648737.1:n.4939+26A>C
ENST00000648825.1:n.1941A>C
ENST00000648916.1:n.3186+26A>C
ENST00000649146.1:n.2444A>C
ENST00000649607.1:c.3359+26A>C
ENST00000649775.1:c.1664+26A>C
ENST00000650226.1:c.5175+26A>C ENSP00000496981.1:n.5175+26A>C
ENST00000281928.7:c.5175+26A>C ENSP00000281928.3:n.5175+26A>C
ENST00000549786.1:c.565A>C
ENST00000552340.1:c.207+26A>C ENSP00000449876.1:n.207+26A>C
NM_015335.4:c.5175+26A>C NP_056150.1:n.5175+26A>C
XM_011538080.1:c.5175+26A>C XP_011536382.1:n.5175+26A>C
XM_011538081.1:c.5172+26A>C XP_011536383.1:n.5172+26A>C
XM_011538082.1:c.5145+26A>C XP_011536384.1:n.5145+26A>C
XM_011538080.2:c.5175+26A>C XP_011536382.1:n.5175+26A>C
XM_011538081.2:c.5172+26A>C XP_011536383.1:n.5172+26A>C
XM_011538082.2:c.5145+26A>C XP_011536384.1:n.5145+26A>C
XM_017019090.1:c.5172+26A>C XP_016874579.1:n.5172+26A>C
NM_015335.5:c.5175+26A>C MANE Select NP_056150.1:n.5175+26A>C