Canonical Allele Identifier: CA386887694
Gene: MED13L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115991494T>C , CM000674.2:g.115991494T>C GRCh38
NC_000012.11:g.116429299T>C , CM000674.1:g.116429299T>C GRCh37
NC_000012.10:g.114913682T>C NCBI36
NG_023366.1:g.290693A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.3460A>G MANE Select ENSP00000281928.3:p.Asn1154Asp
ENST00000549786.2:c.2888A>G
ENST00000648379.1:n.1828A>G
ENST00000648737.1:n.3224A>G
ENST00000648825.1:n.200A>G
ENST00000648916.1:n.1471A>G
ENST00000649607.1:c.1644A>G
ENST00000650226.1:c.3460A>G ENSP00000496981.1:p.Asn1154Asp
ENST00000281928.7:c.3460A>G ENSP00000281928.3:p.Asn1154Asp
NM_015335.4:c.3460A>G NP_056150.1:p.Asn1154Asp
XM_011538080.1:c.3460A>G XP_011536382.1:p.Asn1154Asp
XM_011538081.1:c.3457A>G XP_011536383.1:p.Asn1153Asp
XM_011538082.1:c.3430A>G XP_011536384.1:p.Asn1144Asp
XM_011538080.2:c.3460A>G XP_011536382.1:p.Asn1154Asp
XM_011538081.2:c.3457A>G XP_011536383.1:p.Asn1153Asp
XM_011538082.2:c.3430A>G XP_011536384.1:p.Asn1144Asp
XM_017019090.1:c.3457A>G XP_016874579.1:p.Asn1153Asp
NM_015335.5:c.3460A>G MANE Select NP_056150.1:p.Asn1154Asp