Canonical Allele Identifier: CA386927713

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116675503A>T (hg19) ; chr12:g.116237698A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116237698A>T , CM000674.2:g.116237698A>T	GRCh38
NC_000012.11:g.116675503A>T , CM000674.1:g.116675503A>T	GRCh37
NC_000012.10:g.115159886A>T	NCBI36
NG_023366.1:g.44489T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.80T>A MANE Select	ENSP00000281928.3:p.Leu27His
ENST00000548743.2:c.50T>A	ENSP00000448553.2:p.Leu17His
ENST00000551197.2:c.30T>A
ENST00000650226.1:c.80T>A	ENSP00000496981.1:p.Leu27His
ENST00000650375.1:n.242T>A
ENST00000281928.7:c.80T>A	ENSP00000281928.3:p.Leu27His
ENST00000548743.1:c.50T>A	ENSP00000448553.1:p.Leu17His
ENST00000551197.1:n.30T>A
NM_015335.4:c.80T>A	NP_056150.1:p.Leu27His
XM_011538080.1:c.80T>A	XP_011536382.1:p.Leu27His
XM_011538081.1:c.80T>A	XP_011536383.1:p.Leu27His
XM_011538082.1:c.50T>A	XP_011536384.1:p.Leu17His
XM_011538080.2:c.80T>A	XP_011536382.1:p.Leu27His
XM_011538081.2:c.80T>A	XP_011536383.1:p.Leu27His
XM_011538082.2:c.50T>A	XP_011536384.1:p.Leu17His
XM_017019090.1:c.80T>A	XP_016874579.1:p.Leu27His
NM_015335.5:c.80T>A MANE Select	NP_056150.1:p.Leu27His