Canonical Allele Identifier: CA386878290

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116413038G>A (hg19) ; chr12:g.115975233G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975233G>A , CM000674.2:g.115975233G>A	GRCh38
NC_000012.11:g.116413038G>A , CM000674.1:g.116413038G>A	GRCh37
NC_000012.10:g.114897421G>A	NCBI36
NG_023366.1:g.306954C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5669C>T MANE Select	ENSP00000281928.3:p.Thr1890Ile
ENST00000548694.2:n.659C>T
ENST00000648379.1:n.4037C>T
ENST00000648737.1:n.5433C>T
ENST00000648825.1:n.3854C>T
ENST00000648916.1:n.3680C>T
ENST00000649607.1:c.3853C>T
ENST00000649775.1:c.2158C>T
ENST00000650226.1:c.5705C>T	ENSP00000496981.1:p.Thr1902Ile
ENST00000281928.7:c.5669C>T	ENSP00000281928.3:p.Thr1890Ile
ENST00000548694.1:n.659C>T
ENST00000552447.1:c.282C>T
NM_015335.4:c.5669C>T	NP_056150.1:p.Thr1890Ile
XM_011538080.1:c.5705C>T	XP_011536382.1:p.Thr1902Ile
XM_011538081.1:c.5702C>T	XP_011536383.1:p.Thr1901Ile
XM_011538082.1:c.5675C>T	XP_011536384.1:p.Thr1892Ile
XM_011538080.2:c.5705C>T	XP_011536382.1:p.Thr1902Ile
XM_011538081.2:c.5702C>T	XP_011536383.1:p.Thr1901Ile
XM_011538082.2:c.5675C>T	XP_011536384.1:p.Thr1892Ile
XM_017019090.1:c.5666C>T	XP_016874579.1:p.Thr1889Ile
NM_015335.5:c.5669C>T MANE Select	NP_056150.1:p.Thr1890Ile