Canonical Allele Identifier: CA386878834
Gene: MED13L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115975517G>C , CM000674.2:g.115975517G>C GRCh38
NC_000012.11:g.116413322G>C , CM000674.1:g.116413322G>C GRCh37
NC_000012.10:g.114897705G>C NCBI36
NG_023366.1:g.306670C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.5586C>G MANE Select ENSP00000281928.3:p.Asn1862Lys
ENST00000548694.2:n.375C>G
ENST00000648379.1:n.3954C>G
ENST00000648737.1:n.5350C>G
ENST00000648825.1:n.3771C>G
ENST00000648916.1:n.3597C>G
ENST00000649607.1:c.3770C>G
ENST00000649775.1:c.2075C>G
ENST00000650226.1:c.5586C>G ENSP00000496981.1:p.Asn1862Lys
ENST00000281928.7:c.5586C>G ENSP00000281928.3:p.Asn1862Lys
ENST00000548694.1:n.375C>G
ENST00000552447.1:c.163C>G
NM_015335.4:c.5586C>G NP_056150.1:p.Asn1862Lys
XM_011538080.1:c.5586C>G XP_011536382.1:p.Asn1862Lys
XM_011538081.1:c.5583C>G XP_011536383.1:p.Asn1861Lys
XM_011538082.1:c.5556C>G XP_011536384.1:p.Asn1852Lys
XM_011538080.2:c.5586C>G XP_011536382.1:p.Asn1862Lys
XM_011538081.2:c.5583C>G XP_011536383.1:p.Asn1861Lys
XM_011538082.2:c.5556C>G XP_011536384.1:p.Asn1852Lys
XM_017019090.1:c.5583C>G XP_016874579.1:p.Asn1861Lys
NM_015335.5:c.5586C>G MANE Select NP_056150.1:p.Asn1862Lys