Canonical Allele Identifier: CA2739392327

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975348C>G , CM000674.2:g.115975348C>G	GRCh38
NC_000012.11:g.116413153C>G , CM000674.1:g.116413153C>G	GRCh37
NC_000012.10:g.114897536C>G	NCBI36
NG_023366.1:g.306839G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5589-35G>C MANE Select	ENSP00000281928.3:n.5589-35G>C
ENST00000548694.2:n.544G>C
ENST00000648379.1:n.3957-35G>C
ENST00000648737.1:n.5353-35G>C
ENST00000648825.1:n.3774-35G>C
ENST00000648916.1:n.3600-35G>C
ENST00000649607.1:c.3773-35G>C
ENST00000649775.1:c.2078-35G>C
ENST00000650226.1:c.5590G>C	ENSP00000496981.1:p.Asp1864His
ENST00000281928.7:c.5589-35G>C	ENSP00000281928.3:n.5589-35G>C
ENST00000548694.1:n.544G>C
ENST00000552447.1:c.167G>C
NM_015335.4:c.5589-35G>C	NP_056150.1:n.5589-35G>C
XM_011538080.1:c.5590G>C	XP_011536382.1:p.Asp1864His
XM_011538081.1:c.5587G>C	XP_011536383.1:p.Asp1863His
XM_011538082.1:c.5560G>C	XP_011536384.1:p.Asp1854His
XM_011538080.2:c.5590G>C	XP_011536382.1:p.Asp1864His
XM_011538081.2:c.5587G>C	XP_011536383.1:p.Asp1863His
XM_011538082.2:c.5560G>C	XP_011536384.1:p.Asp1854His
XM_017019090.1:c.5586-35G>C	XP_016874579.1:n.5586-35G>C
NM_015335.5:c.5589-35G>C MANE Select	NP_056150.1:n.5589-35G>C