Canonical Allele Identifier: CA8693073
Gene: MED13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.62011188T>C , CM000679.2:g.62011188T>C GRCh38
NC_000017.10:g.60088549T>C , CM000679.1:g.60088549T>C GRCh37
NC_000017.9:g.57443331T>C NCBI36
NG_046948.1:g.59124A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000397786.7:c.1329A>G MANE Select ENSP00000380888.2:p.Ala443=
ENST00000397786.6:c.1329A>G ENSP00000380888.2:p.Ala443=
ENST00000583958.1:c.307A>G
NM_005121.2:c.1329A>G NP_005112.2:p.Ala443=
XM_011525551.1:c.1329A>G XP_011523853.1:p.Ala443=
XM_011525552.1:c.1329A>G XP_011523854.1:p.Ala443=
XM_011525553.1:c.660A>G XP_011523855.1:p.Ala220=
XM_011525551.2:c.1329A>G XP_011523853.1:p.Ala443=
XM_011525552.2:c.1329A>G XP_011523854.1:p.Ala443=
XM_011525553.3:c.660A>G XP_011523855.1:p.Ala220=
NM_005121.3:c.1329A>G MANE Select NP_005112.2:p.Ala443=