Canonical Allele Identifier: CA481944801

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116413037T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975232T>A , CM000674.2:g.115975232T>A	GRCh38
NC_000012.11:g.116413037T>A , CM000674.1:g.116413037T>A	GRCh37
NC_000012.10:g.114897420T>A	NCBI36
NG_023366.1:g.306955A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5670A>T MANE Select	ENSP00000281928.3:p.Thr1890=
ENST00000548694.2:n.660A>T
ENST00000648379.1:n.4038A>T
ENST00000648737.1:n.5434A>T
ENST00000648825.1:n.3855A>T
ENST00000648916.1:n.3681A>T
ENST00000649607.1:c.3854A>T
ENST00000649775.1:c.2159A>T
ENST00000650226.1:c.5706A>T	ENSP00000496981.1:p.Thr1902=
ENST00000281928.7:c.5670A>T	ENSP00000281928.3:p.Thr1890=
ENST00000548694.1:n.660A>T
ENST00000552447.1:c.283A>T
NM_015335.4:c.5670A>T	NP_056150.1:p.Thr1890=
XM_011538080.1:c.5706A>T	XP_011536382.1:p.Thr1902=
XM_011538081.1:c.5703A>T	XP_011536383.1:p.Thr1901=
XM_011538082.1:c.5676A>T	XP_011536384.1:p.Thr1892=
XM_011538080.2:c.5706A>T	XP_011536382.1:p.Thr1902=
XM_011538081.2:c.5703A>T	XP_011536383.1:p.Thr1901=
XM_011538082.2:c.5676A>T	XP_011536384.1:p.Thr1892=
XM_017019090.1:c.5667A>T	XP_016874579.1:p.Thr1889=
NM_015335.5:c.5670A>T MANE Select	NP_056150.1:p.Thr1890=