Canonical Allele Identifier: CA386927553

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116675429G>T (hg19) ; chr12:g.116237624G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116237624G>T , CM000674.2:g.116237624G>T	GRCh38
NC_000012.11:g.116675429G>T , CM000674.1:g.116675429G>T	GRCh37
NC_000012.10:g.115159812G>T	NCBI36
NG_023366.1:g.44563C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.154C>A MANE Select	ENSP00000281928.3:p.Gln52Lys
ENST00000548743.2:c.124C>A	ENSP00000448553.2:p.Gln42Lys
ENST00000551197.2:c.104C>A
ENST00000647567.1:c.64C>A	ENSP00000497136.1:p.Gln22Lys
ENST00000650226.1:c.154C>A	ENSP00000496981.1:p.Gln52Lys
ENST00000650375.1:n.316C>A
ENST00000281928.7:c.154C>A	ENSP00000281928.3:p.Gln52Lys
ENST00000548743.1:c.124C>A	ENSP00000448553.1:p.Gln42Lys
ENST00000551197.1:n.104C>A
NM_015335.4:c.154C>A	NP_056150.1:p.Gln52Lys
XM_011538080.1:c.154C>A	XP_011536382.1:p.Gln52Lys
XM_011538081.1:c.154C>A	XP_011536383.1:p.Gln52Lys
XM_011538082.1:c.124C>A	XP_011536384.1:p.Gln42Lys
XM_011538080.2:c.154C>A	XP_011536382.1:p.Gln52Lys
XM_011538081.2:c.154C>A	XP_011536383.1:p.Gln52Lys
XM_011538082.2:c.124C>A	XP_011536384.1:p.Gln42Lys
XM_017019090.1:c.154C>A	XP_016874579.1:p.Gln52Lys
NM_015335.5:c.154C>A MANE Select	NP_056150.1:p.Gln52Lys