Canonical Allele Identifier: CA386876439

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408516G>C (hg19) ; chr12:g.115970711G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970711G>C , CM000674.2:g.115970711G>C	GRCh38
NC_000012.11:g.116408516G>C , CM000674.1:g.116408516G>C	GRCh37
NC_000012.10:g.114892899G>C	NCBI36
NG_023366.1:g.311476C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.5950C>G MANE Select	ENSP00000281928.3:p.Gln1984Glu
ENST00000548784.2:n.2164C>G
ENST00000648379.1:n.4318C>G
ENST00000648737.1:n.5714C>G
ENST00000648825.1:n.4135C>G
ENST00000648916.1:n.3961C>G
ENST00000649607.1:c.4134C>G
ENST00000649775.1:c.2439C>G
ENST00000650226.1:c.5986C>G	ENSP00000496981.1:p.Gln1996Glu
ENST00000281928.7:c.5950C>G	ENSP00000281928.3:p.Gln1984Glu
ENST00000548784.1:n.448C>G
ENST00000552447.1:c.563C>G
NM_015335.4:c.5950C>G	NP_056150.1:p.Gln1984Glu
XM_011538080.1:c.5986C>G	XP_011536382.1:p.Gln1996Glu
XM_011538081.1:c.5983C>G	XP_011536383.1:p.Gln1995Glu
XM_011538082.1:c.5956C>G	XP_011536384.1:p.Gln1986Glu
XM_011538080.2:c.5986C>G	XP_011536382.1:p.Gln1996Glu
XM_011538081.2:c.5983C>G	XP_011536383.1:p.Gln1995Glu
XM_011538082.2:c.5956C>G	XP_011536384.1:p.Gln1986Glu
XM_017019090.1:c.5947C>G	XP_016874579.1:p.Gln1983Glu
NM_015335.5:c.5950C>G MANE Select	NP_056150.1:p.Gln1984Glu