Canonical Allele Identifier: CA8692395

Gene: MED13

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61965283A>C , CM000679.2:g.61965283A>C	GRCh38
NC_000017.10:g.60042644A>C , CM000679.1:g.60042644A>C	GRCh37
NC_000017.9:g.57397426A>C	NCBI36
NG_046948.1:g.105029T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397786.7:c.4567T>G MANE Select	ENSP00000380888.2:p.Ser1523Ala
ENST00000397786.6:c.4567T>G	ENSP00000380888.2:p.Ser1523Ala
NM_005121.2:c.4567T>G	NP_005112.2:p.Ser1523Ala
XM_011525551.1:c.4567T>G	XP_011523853.1:p.Ser1523Ala
XM_011525552.1:c.4567T>G	XP_011523854.1:p.Ser1523Ala
XM_011525553.1:c.3898T>G	XP_011523855.1:p.Ser1300Ala
XM_011525554.1:c.2236T>G	XP_011523856.1:p.Ser746Ala
XM_011525551.2:c.4567T>G	XP_011523853.1:p.Ser1523Ala
XM_011525552.2:c.4567T>G	XP_011523854.1:p.Ser1523Ala
XM_011525553.3:c.3898T>G	XP_011523855.1:p.Ser1300Ala
NM_005121.3:c.4567T>G MANE Select	NP_005112.2:p.Ser1523Ala