Canonical Allele Identifier: CA386878651

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116413101A>C (hg19) ; chr12:g.115975296A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975296A>C , CM000674.2:g.115975296A>C	GRCh38
NC_000012.11:g.116413101A>C , CM000674.1:g.116413101A>C	GRCh37
NC_000012.10:g.114897484A>C	NCBI36
NG_023366.1:g.306891T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.5606T>G MANE Select	ENSP00000281928.3:p.Val1869Gly
ENST00000548694.2:n.596T>G
ENST00000648379.1:n.3974T>G
ENST00000648737.1:n.5370T>G
ENST00000648825.1:n.3791T>G
ENST00000648916.1:n.3617T>G
ENST00000649607.1:c.3790T>G
ENST00000649775.1:c.2095T>G
ENST00000650226.1:c.5642T>G	ENSP00000496981.1:p.Val1881Gly
ENST00000281928.7:c.5606T>G	ENSP00000281928.3:p.Val1869Gly
ENST00000548694.1:n.596T>G
ENST00000552447.1:c.219T>G
NM_015335.4:c.5606T>G	NP_056150.1:p.Val1869Gly
XM_011538080.1:c.5642T>G	XP_011536382.1:p.Val1881Gly
XM_011538081.1:c.5639T>G	XP_011536383.1:p.Val1880Gly
XM_011538082.1:c.5612T>G	XP_011536384.1:p.Val1871Gly
XM_011538080.2:c.5642T>G	XP_011536382.1:p.Val1881Gly
XM_011538081.2:c.5639T>G	XP_011536383.1:p.Val1880Gly
XM_011538082.2:c.5612T>G	XP_011536384.1:p.Val1871Gly
XM_017019090.1:c.5603T>G	XP_016874579.1:p.Val1868Gly
NM_015335.5:c.5606T>G MANE Select	NP_056150.1:p.Val1869Gly