Canonical Allele Identifier: CA386878461

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116413065T>C (hg19) ; chr12:g.115975260T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975260T>C , CM000674.2:g.115975260T>C	GRCh38
NC_000012.11:g.116413065T>C , CM000674.1:g.116413065T>C	GRCh37
NC_000012.10:g.114897448T>C	NCBI36
NG_023366.1:g.306927A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5642A>G MANE Select	ENSP00000281928.3:p.Glu1881Gly
ENST00000548694.2:n.632A>G
ENST00000648379.1:n.4010A>G
ENST00000648737.1:n.5406A>G
ENST00000648825.1:n.3827A>G
ENST00000648916.1:n.3653A>G
ENST00000649607.1:c.3826A>G
ENST00000649775.1:c.2131A>G
ENST00000650226.1:c.5678A>G	ENSP00000496981.1:p.Glu1893Gly
ENST00000281928.7:c.5642A>G	ENSP00000281928.3:p.Glu1881Gly
ENST00000548694.1:n.632A>G
ENST00000552447.1:c.255A>G
NM_015335.4:c.5642A>G	NP_056150.1:p.Glu1881Gly
XM_011538080.1:c.5678A>G	XP_011536382.1:p.Glu1893Gly
XM_011538081.1:c.5675A>G	XP_011536383.1:p.Glu1892Gly
XM_011538082.1:c.5648A>G	XP_011536384.1:p.Glu1883Gly
XM_011538080.2:c.5678A>G	XP_011536382.1:p.Glu1893Gly
XM_011538081.2:c.5675A>G	XP_011536383.1:p.Glu1892Gly
XM_011538082.2:c.5648A>G	XP_011536384.1:p.Glu1883Gly
XM_017019090.1:c.5639A>G	XP_016874579.1:p.Glu1880Gly
NM_015335.5:c.5642A>G MANE Select	NP_056150.1:p.Glu1881Gly