Canonical Allele Identifier: CA386890898

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116435021G>C (hg19) ; chr12:g.115997216G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997216G>C , CM000674.2:g.115997216G>C	GRCh38
NC_000012.11:g.116435021G>C , CM000674.1:g.116435021G>C	GRCh37
NC_000012.10:g.114919404G>C	NCBI36
NG_023366.1:g.284971C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2584C>G MANE Select	ENSP00000281928.3:p.Gln862Glu
ENST00000548743.2:c.2554C>G	ENSP00000448553.2:p.Gln852Glu
ENST00000549786.2:c.2012C>G
ENST00000647927.1:n.2957C>G
ENST00000648173.1:n.1379C>G
ENST00000648379.1:n.952C>G
ENST00000648737.1:n.2348C>G
ENST00000648916.1:n.595C>G
ENST00000649607.1:c.768C>G
ENST00000650226.1:c.2584C>G	ENSP00000496981.1:p.Gln862Glu
ENST00000281928.7:c.2584C>G	ENSP00000281928.3:p.Gln862Glu
NM_015335.4:c.2584C>G	NP_056150.1:p.Gln862Glu
XM_011538080.1:c.2584C>G	XP_011536382.1:p.Gln862Glu
XM_011538081.1:c.2581C>G	XP_011536383.1:p.Gln861Glu
XM_011538082.1:c.2554C>G	XP_011536384.1:p.Gln852Glu
XM_011538080.2:c.2584C>G	XP_011536382.1:p.Gln862Glu
XM_011538081.2:c.2581C>G	XP_011536383.1:p.Gln861Glu
XM_011538082.2:c.2554C>G	XP_011536384.1:p.Gln852Glu
XM_017019090.1:c.2581C>G	XP_016874579.1:p.Gln861Glu
NM_015335.5:c.2584C>G MANE Select	NP_056150.1:p.Gln862Glu