Canonical Allele Identifier: CA481943220

Gene: MED13L

Linked Data

• dbSNP Id: rs1876522046
• MyVariant Identifiers: chr12:g.116408514C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970709C>T , CM000674.2:g.115970709C>T	GRCh38
NC_000012.11:g.116408514C>T , CM000674.1:g.116408514C>T	GRCh37
NC_000012.10:g.114892897C>T	NCBI36
NG_023366.1:g.311478G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.5952G>A MANE Select	ENSP00000281928.3:p.Gln1984=
ENST00000548784.2:n.2166G>A
ENST00000648379.1:n.4320G>A
ENST00000648737.1:n.5716G>A
ENST00000648825.1:n.4137G>A
ENST00000648916.1:n.3963G>A
ENST00000649607.1:c.4136G>A
ENST00000649775.1:c.2441G>A
ENST00000650226.1:c.5988G>A	ENSP00000496981.1:p.Gln1996=
ENST00000281928.7:c.5952G>A	ENSP00000281928.3:p.Gln1984=
ENST00000548784.1:n.450G>A
ENST00000552447.1:c.565G>A
NM_015335.4:c.5952G>A	NP_056150.1:p.Gln1984=
XM_011538080.1:c.5988G>A	XP_011536382.1:p.Gln1996=
XM_011538081.1:c.5985G>A	XP_011536383.1:p.Gln1995=
XM_011538082.1:c.5958G>A	XP_011536384.1:p.Gln1986=
XM_011538080.2:c.5988G>A	XP_011536382.1:p.Gln1996=
XM_011538081.2:c.5985G>A	XP_011536383.1:p.Gln1995=
XM_011538082.2:c.5958G>A	XP_011536384.1:p.Gln1986=
XM_017019090.1:c.5949G>A	XP_016874579.1:p.Gln1983=
NM_015335.5:c.5952G>A MANE Select	NP_056150.1:p.Gln1984=