Canonical Allele Identifier: CA6811113
Gene: MED13L HGNC NCBI

Linked Data

ClinVar Variation Id: 2532656
dbSNP Id: rs371712978

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115997095A>G , CM000674.2:g.115997095A>G GRCh38
NC_000012.11:g.116434900A>G , CM000674.1:g.116434900A>G GRCh37
NC_000012.10:g.114919283A>G NCBI36
NG_023366.1:g.285092T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.2705T>C MANE Select ENSP00000281928.3:p.Met902Thr
ENST00000548743.2:c.2675T>C ENSP00000448553.2:p.Met892Thr
ENST00000549786.2:c.2133T>C
ENST00000647927.1:n.3078T>C
ENST00000648173.1:n.1500T>C
ENST00000648379.1:n.1073T>C
ENST00000648737.1:n.2469T>C
ENST00000648916.1:n.716T>C
ENST00000649607.1:c.889T>C
ENST00000650226.1:c.2705T>C ENSP00000496981.1:p.Met902Thr
ENST00000281928.7:c.2705T>C ENSP00000281928.3:p.Met902Thr
NM_015335.4:c.2705T>C NP_056150.1:p.Met902Thr
XM_011538080.1:c.2705T>C XP_011536382.1:p.Met902Thr
XM_011538081.1:c.2702T>C XP_011536383.1:p.Met901Thr
XM_011538082.1:c.2675T>C XP_011536384.1:p.Met892Thr
XM_011538080.2:c.2705T>C XP_011536382.1:p.Met902Thr
XM_011538081.2:c.2702T>C XP_011536383.1:p.Met901Thr
XM_011538082.2:c.2675T>C XP_011536384.1:p.Met892Thr
XM_017019090.1:c.2702T>C XP_016874579.1:p.Met901Thr
NM_015335.5:c.2705T>C MANE Select NP_056150.1:p.Met902Thr