Canonical Allele Identifier: CA2065387114
Gene: MED13L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115991932C= , CM000674.2:g.115991932C= GRCh38
NC_000012.11:g.116429737C= , CM000674.1:g.116429737C= GRCh37
NC_000012.10:g.114914120C= NCBI36
NG_023366.1:g.290255G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.3022G= MANE Select ENSP00000281928.3:p.Ala1008=
ENST00000548743.2:c.2992G= ENSP00000448553.2:p.Ala998=
ENST00000549786.2:c.2450G=
ENST00000648173.1:n.1817G=
ENST00000648379.1:n.1390G=
ENST00000648737.1:n.2786G=
ENST00000648916.1:n.1033G=
ENST00000649607.1:c.1206G=
ENST00000650226.1:c.3022G= ENSP00000496981.1:p.Ala1008=
ENST00000281928.7:c.3022G= ENSP00000281928.3:p.Ala1008=
NM_015335.4:c.3022G= NP_056150.1:p.Ala1008=
XM_011538080.1:c.3022G= XP_011536382.1:p.Ala1008=
XM_011538081.1:c.3019G= XP_011536383.1:p.Ala1007=
XM_011538082.1:c.2992G= XP_011536384.1:p.Ala998=
XM_011538080.2:c.3022G= XP_011536382.1:p.Ala1008=
XM_011538081.2:c.3019G= XP_011536383.1:p.Ala1007=
XM_011538082.2:c.2992G= XP_011536384.1:p.Ala998=
XM_017019090.1:c.3019G= XP_016874579.1:p.Ala1007=
NM_015335.5:c.3022G= MANE Select NP_056150.1:p.Ala1008=