Canonical Allele Identifier: CA16043677
Gene: MED13L HGNC NCBI

Linked Data

ClinVar Variation Id: 374334
ClinVar RCV Id: RCV000415412
dbSNP Id: rs1057518705

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115982605T>G , CM000674.2:g.115982605T>G GRCh38
NC_000012.11:g.116420410T>G , CM000674.1:g.116420410T>G GRCh37
NC_000012.10:g.114904793T>G NCBI36
NG_023366.1:g.299582A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000281928.9:c.4956-2A>C MANE Select ENSP00000281928.3:n.4956-2A>C
ENST00000549786.2:c.4384-2A>C
ENST00000648379.1:n.3324-2A>C
ENST00000648737.1:n.4720-2A>C
ENST00000648825.1:n.1696-2A>C
ENST00000648916.1:n.2967-2A>C
ENST00000649146.1:n.2197A>C
ENST00000649607.1:c.3140-2A>C
ENST00000649775.1:c.1453-10A>C
ENST00000650226.1:c.4956-2A>C ENSP00000496981.1:n.4956-2A>C
ENST00000281928.7:c.4956-2A>C ENSP00000281928.3:n.4956-2A>C
ENST00000549786.1:c.320-2A>C
NM_015335.4:c.4956-2A>C NP_056150.1:n.4956-2A>C
XM_011538080.1:c.4956-2A>C XP_011536382.1:n.4956-2A>C
XM_011538081.1:c.4953-2A>C XP_011536383.1:n.4953-2A>C
XM_011538082.1:c.4926-2A>C XP_011536384.1:n.4926-2A>C
XM_011538080.2:c.4956-2A>C XP_011536382.1:n.4956-2A>C
XM_011538081.2:c.4953-2A>C XP_011536383.1:n.4953-2A>C
XM_011538082.2:c.4926-2A>C XP_011536384.1:n.4926-2A>C
XM_017019090.1:c.4953-2A>C XP_016874579.1:n.4953-2A>C
NM_015335.5:c.4956-2A>C MANE Select NP_056150.1:n.4956-2A>C