Canonical Allele Identifier: CA386878208

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116413018C>G (hg19) ; chr12:g.115975213C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975213C>G , CM000674.2:g.115975213C>G	GRCh38
NC_000012.11:g.116413018C>G , CM000674.1:g.116413018C>G	GRCh37
NC_000012.10:g.114897401C>G	NCBI36
NG_023366.1:g.306974G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5689G>C MANE Select	ENSP00000281928.3:p.Val1897Leu
ENST00000548694.2:n.679G>C
ENST00000648379.1:n.4057G>C
ENST00000648737.1:n.5453G>C
ENST00000648825.1:n.3874G>C
ENST00000648916.1:n.3700G>C
ENST00000649607.1:c.3873G>C
ENST00000649775.1:c.2178G>C
ENST00000650226.1:c.5725G>C	ENSP00000496981.1:p.Val1909Leu
ENST00000281928.7:c.5689G>C	ENSP00000281928.3:p.Val1897Leu
ENST00000548694.1:n.679G>C
ENST00000552447.1:c.302G>C
NM_015335.4:c.5689G>C	NP_056150.1:p.Val1897Leu
XM_011538080.1:c.5725G>C	XP_011536382.1:p.Val1909Leu
XM_011538081.1:c.5722G>C	XP_011536383.1:p.Val1908Leu
XM_011538082.1:c.5695G>C	XP_011536384.1:p.Val1899Leu
XM_011538080.2:c.5725G>C	XP_011536382.1:p.Val1909Leu
XM_011538081.2:c.5722G>C	XP_011536383.1:p.Val1908Leu
XM_011538082.2:c.5695G>C	XP_011536384.1:p.Val1899Leu
XM_017019090.1:c.5686G>C	XP_016874579.1:p.Val1896Leu
NM_015335.5:c.5689G>C MANE Select	NP_056150.1:p.Val1897Leu