Canonical Allele Identifier: CA386878155

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116413005A>C (hg19) ; chr12:g.115975200A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975200A>C , CM000674.2:g.115975200A>C	GRCh38
NC_000012.11:g.116413005A>C , CM000674.1:g.116413005A>C	GRCh37
NC_000012.10:g.114897388A>C	NCBI36
NG_023366.1:g.306987T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5702T>G MANE Select	ENSP00000281928.3:p.Leu1901Arg
ENST00000548694.2:n.692T>G
ENST00000648379.1:n.4070T>G
ENST00000648737.1:n.5466T>G
ENST00000648825.1:n.3887T>G
ENST00000648916.1:n.3713T>G
ENST00000649607.1:c.3886T>G
ENST00000649775.1:c.2191T>G
ENST00000650226.1:c.5738T>G	ENSP00000496981.1:p.Leu1913Arg
ENST00000281928.7:c.5702T>G	ENSP00000281928.3:p.Leu1901Arg
ENST00000548694.1:n.692T>G
ENST00000552447.1:c.315T>G
NM_015335.4:c.5702T>G	NP_056150.1:p.Leu1901Arg
XM_011538080.1:c.5738T>G	XP_011536382.1:p.Leu1913Arg
XM_011538081.1:c.5735T>G	XP_011536383.1:p.Leu1912Arg
XM_011538082.1:c.5708T>G	XP_011536384.1:p.Leu1903Arg
XM_011538080.2:c.5738T>G	XP_011536382.1:p.Leu1913Arg
XM_011538081.2:c.5735T>G	XP_011536383.1:p.Leu1912Arg
XM_011538082.2:c.5708T>G	XP_011536384.1:p.Leu1903Arg
XM_017019090.1:c.5699T>G	XP_016874579.1:p.Leu1900Arg
NM_015335.5:c.5702T>G MANE Select	NP_056150.1:p.Leu1901Arg