Canonical Allele Identifier: CA501336731
Gene: MED13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61982709G>A , CM000679.2:g.61982709G>A GRCh38
NC_000017.10:g.60060070G>A , CM000679.1:g.60060070G>A GRCh37
NC_000017.9:g.57414852G>A NCBI36
NG_046948.1:g.87603C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000397786.7:c.3294C>T MANE Select ENSP00000380888.2:p.Cys1098=
ENST00000397786.6:c.3294C>T ENSP00000380888.2:p.Cys1098=
NM_005121.2:c.3294C>T NP_005112.2:p.Cys1098=
XM_011525551.1:c.3294C>T XP_011523853.1:p.Cys1098=
XM_011525552.1:c.3294C>T XP_011523854.1:p.Cys1098=
XM_011525553.1:c.2625C>T XP_011523855.1:p.Cys875=
XM_011525554.1:c.963C>T XP_011523856.1:p.Cys321=
XM_011525551.2:c.3294C>T XP_011523853.1:p.Cys1098=
XM_011525552.2:c.3294C>T XP_011523854.1:p.Cys1098=
XM_011525553.3:c.2625C>T XP_011523855.1:p.Cys875=
NM_005121.3:c.3294C>T MANE Select NP_005112.2:p.Cys1098=