Canonical Allele Identifier: CA2065372391
Gene: MED13L HGNC NCBI

Linked Data

dbSNP Id: rs1877425644

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115982875A>C , CM000674.2:g.115982875A>C GRCh38
NC_000012.11:g.116420680A>C , CM000674.1:g.116420680A>C GRCh37
NC_000012.10:g.114905063A>C NCBI36
NG_023366.1:g.299312T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.4955+242T>G MANE Select ENSP00000281928.3:n.4955+242T>G
ENST00000549786.2:c.4383+242T>G
ENST00000648379.1:n.3323+242T>G
ENST00000648737.1:n.4719+242T>G
ENST00000648825.1:n.1695+242T>G
ENST00000648916.1:n.2966+242T>G
ENST00000649146.1:n.1927T>G
ENST00000649607.1:c.3139+242T>G
ENST00000649775.1:c.1452+242T>G
ENST00000650226.1:c.4955+242T>G ENSP00000496981.1:n.4955+242T>G
ENST00000281928.7:c.4955+242T>G ENSP00000281928.3:n.4955+242T>G
ENST00000549786.1:c.319+242T>G
NM_015335.4:c.4955+242T>G NP_056150.1:n.4955+242T>G
XM_011538080.1:c.4955+242T>G XP_011536382.1:n.4955+242T>G
XM_011538081.1:c.4952+242T>G XP_011536383.1:n.4952+242T>G
XM_011538082.1:c.4925+242T>G XP_011536384.1:n.4925+242T>G
XM_011538080.2:c.4955+242T>G XP_011536382.1:n.4955+242T>G
XM_011538081.2:c.4952+242T>G XP_011536383.1:n.4952+242T>G
XM_011538082.2:c.4925+242T>G XP_011536384.1:n.4925+242T>G
XM_017019090.1:c.4952+242T>G XP_016874579.1:n.4952+242T>G
NM_015335.5:c.4955+242T>G MANE Select NP_056150.1:n.4955+242T>G