Canonical Allele Identifier: CA386878631

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116413095G>T (hg19) ; chr12:g.115975290G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975290G>T , CM000674.2:g.115975290G>T	GRCh38
NC_000012.11:g.116413095G>T , CM000674.1:g.116413095G>T	GRCh37
NC_000012.10:g.114897478G>T	NCBI36
NG_023366.1:g.306897C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5612C>A MANE Select	ENSP00000281928.3:p.Ala1871Glu
ENST00000548694.2:n.602C>A
ENST00000648379.1:n.3980C>A
ENST00000648737.1:n.5376C>A
ENST00000648825.1:n.3797C>A
ENST00000648916.1:n.3623C>A
ENST00000649607.1:c.3796C>A
ENST00000649775.1:c.2101C>A
ENST00000650226.1:c.5648C>A	ENSP00000496981.1:p.Ala1883Glu
ENST00000281928.7:c.5612C>A	ENSP00000281928.3:p.Ala1871Glu
ENST00000548694.1:n.602C>A
ENST00000552447.1:c.225C>A
NM_015335.4:c.5612C>A	NP_056150.1:p.Ala1871Glu
XM_011538080.1:c.5648C>A	XP_011536382.1:p.Ala1883Glu
XM_011538081.1:c.5645C>A	XP_011536383.1:p.Ala1882Glu
XM_011538082.1:c.5618C>A	XP_011536384.1:p.Ala1873Glu
XM_011538080.2:c.5648C>A	XP_011536382.1:p.Ala1883Glu
XM_011538081.2:c.5645C>A	XP_011536383.1:p.Ala1882Glu
XM_011538082.2:c.5618C>A	XP_011536384.1:p.Ala1873Glu
XM_017019090.1:c.5609C>A	XP_016874579.1:p.Ala1870Glu
NM_015335.5:c.5612C>A MANE Select	NP_056150.1:p.Ala1871Glu