Canonical Allele Identifier: CA481943261

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408568G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970763G>T , CM000674.2:g.115970763G>T	GRCh38
NC_000012.11:g.116408568G>T , CM000674.1:g.116408568G>T	GRCh37
NC_000012.10:g.114892951G>T	NCBI36
NG_023366.1:g.311424C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5898C>A MANE Select	ENSP00000281928.3:p.Val1966=
ENST00000548694.2:n.888C>A
ENST00000548784.2:n.2112C>A
ENST00000648379.1:n.4266C>A
ENST00000648737.1:n.5662C>A
ENST00000648825.1:n.4083C>A
ENST00000648916.1:n.3909C>A
ENST00000649607.1:c.4082C>A
ENST00000649775.1:c.2387C>A
ENST00000650226.1:c.5934C>A	ENSP00000496981.1:p.Val1978=
ENST00000281928.7:c.5898C>A	ENSP00000281928.3:p.Val1966=
ENST00000548784.1:n.396C>A
ENST00000552447.1:c.511C>A
NM_015335.4:c.5898C>A	NP_056150.1:p.Val1966=
XM_011538080.1:c.5934C>A	XP_011536382.1:p.Val1978=
XM_011538081.1:c.5931C>A	XP_011536383.1:p.Val1977=
XM_011538082.1:c.5904C>A	XP_011536384.1:p.Val1968=
XM_011538080.2:c.5934C>A	XP_011536382.1:p.Val1978=
XM_011538081.2:c.5931C>A	XP_011536383.1:p.Val1977=
XM_011538082.2:c.5904C>A	XP_011536384.1:p.Val1968=
XM_017019090.1:c.5895C>A	XP_016874579.1:p.Val1965=
NM_015335.5:c.5898C>A MANE Select	NP_056150.1:p.Val1966=