Canonical Allele Identifier: CA386878621

Gene: MED13L

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975287C>G , CM000674.2:g.115975287C>G	GRCh38
NC_000012.11:g.116413092C>G , CM000674.1:g.116413092C>G	GRCh37
NC_000012.10:g.114897475C>G	NCBI36
NG_023366.1:g.306900G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5615G>C MANE Select	ENSP00000281928.3:p.Arg1872Pro
ENST00000548694.2:n.605G>C
ENST00000648379.1:n.3983G>C
ENST00000648737.1:n.5379G>C
ENST00000648825.1:n.3800G>C
ENST00000648916.1:n.3626G>C
ENST00000649607.1:c.3799G>C
ENST00000649775.1:c.2104G>C
ENST00000650226.1:c.5651G>C	ENSP00000496981.1:p.Arg1884Pro
ENST00000281928.7:c.5615G>C	ENSP00000281928.3:p.Arg1872Pro
ENST00000548694.1:n.605G>C
ENST00000552447.1:c.228G>C
NM_015335.4:c.5615G>C	NP_056150.1:p.Arg1872Pro
XM_011538080.1:c.5651G>C	XP_011536382.1:p.Arg1884Pro
XM_011538081.1:c.5648G>C	XP_011536383.1:p.Arg1883Pro
XM_011538082.1:c.5621G>C	XP_011536384.1:p.Arg1874Pro
XM_011538080.2:c.5651G>C	XP_011536382.1:p.Arg1884Pro
XM_011538081.2:c.5648G>C	XP_011536383.1:p.Arg1883Pro
XM_011538082.2:c.5621G>C	XP_011536384.1:p.Arg1874Pro
XM_017019090.1:c.5612G>C	XP_016874579.1:p.Arg1871Pro
NM_015335.5:c.5615G>C MANE Select	NP_056150.1:p.Arg1872Pro