Canonical Allele Identifier: CA6810998
Gene: MED13L HGNC NCBI

Linked Data

ClinVar Variation Id: 2159042
ClinVar RCV Id: RCV003072609
dbSNP Id: rs149578923

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115991662C>T , CM000674.2:g.115991662C>T GRCh38
NC_000012.11:g.116429467C>T , CM000674.1:g.116429467C>T GRCh37
NC_000012.10:g.114913850C>T NCBI36
NG_023366.1:g.290525G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.3292G>A MANE Select ENSP00000281928.3:p.Ala1098Thr
ENST00000549786.2:c.2720G>A
ENST00000648379.1:n.1660G>A
ENST00000648737.1:n.3056G>A
ENST00000648825.1:n.32G>A
ENST00000648916.1:n.1303G>A
ENST00000649607.1:c.1476G>A
ENST00000650226.1:c.3292G>A ENSP00000496981.1:p.Ala1098Thr
ENST00000281928.7:c.3292G>A ENSP00000281928.3:p.Ala1098Thr
NM_015335.4:c.3292G>A NP_056150.1:p.Ala1098Thr
XM_011538080.1:c.3292G>A XP_011536382.1:p.Ala1098Thr
XM_011538081.1:c.3289G>A XP_011536383.1:p.Ala1097Thr
XM_011538082.1:c.3262G>A XP_011536384.1:p.Ala1088Thr
XM_011538080.2:c.3292G>A XP_011536382.1:p.Ala1098Thr
XM_011538081.2:c.3289G>A XP_011536383.1:p.Ala1097Thr
XM_011538082.2:c.3262G>A XP_011536384.1:p.Ala1088Thr
XM_017019090.1:c.3289G>A XP_016874579.1:p.Ala1097Thr
NM_015335.5:c.3292G>A MANE Select NP_056150.1:p.Ala1098Thr