Canonical Allele Identifier: CA8692415
Gene: MED13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61965407G>A , CM000679.2:g.61965407G>A GRCh38
NC_000017.10:g.60042768G>A , CM000679.1:g.60042768G>A GRCh37
NC_000017.9:g.57397550G>A NCBI36
NG_046948.1:g.104905C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000397786.7:c.4443C>T MANE Select ENSP00000380888.2:p.Ala1481=
ENST00000397786.6:c.4443C>T ENSP00000380888.2:p.Ala1481=
NM_005121.2:c.4443C>T NP_005112.2:p.Ala1481=
XM_011525551.1:c.4443C>T XP_011523853.1:p.Ala1481=
XM_011525552.1:c.4443C>T XP_011523854.1:p.Ala1481=
XM_011525553.1:c.3774C>T XP_011523855.1:p.Ala1258=
XM_011525554.1:c.2112C>T XP_011523856.1:p.Ala704=
XM_011525551.2:c.4443C>T XP_011523853.1:p.Ala1481=
XM_011525552.2:c.4443C>T XP_011523854.1:p.Ala1481=
XM_011525553.3:c.3774C>T XP_011523855.1:p.Ala1258=
NM_005121.3:c.4443C>T MANE Select NP_005112.2:p.Ala1481=