Canonical Allele Identifier: CA386878206

Gene: MED13L

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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