Canonical Allele Identifier: CA6810638
Gene: MED13L HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115980920T>C , CM000674.2:g.115980920T>C GRCh38
NC_000012.11:g.116418725T>C , CM000674.1:g.116418725T>C GRCh37
NC_000012.10:g.114903108T>C NCBI36
NG_023366.1:g.301267A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.5194A>G MANE Select ENSP00000281928.3:p.Met1732Val
ENST00000648379.1:n.3562A>G
ENST00000648737.1:n.4958A>G
ENST00000648825.1:n.3379A>G
ENST00000648916.1:n.3205A>G
ENST00000649378.1:n.385A>G
ENST00000649607.1:c.3378A>G
ENST00000649775.1:c.1683A>G
ENST00000650226.1:c.5194A>G ENSP00000496981.1:p.Met1732Val
ENST00000281928.7:c.5194A>G ENSP00000281928.3:p.Met1732Val
ENST00000552340.1:c.226A>G ENSP00000449876.1:p.Met76Val
NM_015335.4:c.5194A>G NP_056150.1:p.Met1732Val
XM_011538080.1:c.5194A>G XP_011536382.1:p.Met1732Val
XM_011538081.1:c.5191A>G XP_011536383.1:p.Met1731Val
XM_011538082.1:c.5164A>G XP_011536384.1:p.Met1722Val
XM_011538080.2:c.5194A>G XP_011536382.1:p.Met1732Val
XM_011538081.2:c.5191A>G XP_011536383.1:p.Met1731Val
XM_011538082.2:c.5164A>G XP_011536384.1:p.Met1722Val
XM_017019090.1:c.5191A>G XP_016874579.1:p.Met1731Val
NM_015335.5:c.5194A>G MANE Select NP_056150.1:p.Met1732Val