Canonical Allele Identifier: CA481945204

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116413334A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975529A>G , CM000674.2:g.115975529A>G	GRCh38
NC_000012.11:g.116413334A>G , CM000674.1:g.116413334A>G	GRCh37
NC_000012.10:g.114897717A>G	NCBI36
NG_023366.1:g.306658T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5574T>C MANE Select	ENSP00000281928.3:p.Ile1858=
ENST00000548694.2:n.363T>C
ENST00000648379.1:n.3942T>C
ENST00000648737.1:n.5338T>C
ENST00000648825.1:n.3759T>C
ENST00000648916.1:n.3585T>C
ENST00000649607.1:c.3758T>C
ENST00000649775.1:c.2063T>C
ENST00000650226.1:c.5574T>C	ENSP00000496981.1:p.Ile1858=
ENST00000281928.7:c.5574T>C	ENSP00000281928.3:p.Ile1858=
ENST00000548694.1:n.363T>C
ENST00000552447.1:c.151T>C
NM_015335.4:c.5574T>C	NP_056150.1:p.Ile1858=
XM_011538080.1:c.5574T>C	XP_011536382.1:p.Ile1858=
XM_011538081.1:c.5571T>C	XP_011536383.1:p.Ile1857=
XM_011538082.1:c.5544T>C	XP_011536384.1:p.Ile1848=
XM_011538080.2:c.5574T>C	XP_011536382.1:p.Ile1858=
XM_011538081.2:c.5571T>C	XP_011536383.1:p.Ile1857=
XM_011538082.2:c.5544T>C	XP_011536384.1:p.Ile1848=
XM_017019090.1:c.5571T>C	XP_016874579.1:p.Ile1857=
NM_015335.5:c.5574T>C MANE Select	NP_056150.1:p.Ile1858=