Canonical Allele Identifier: CA481950079

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116440860T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116003055T>G , CM000674.2:g.116003055T>G	GRCh38
NC_000012.11:g.116440860T>G , CM000674.1:g.116440860T>G	GRCh37
NC_000012.10:g.114925243T>G	NCBI36
NG_023366.1:g.279132A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2517A>C MANE Select	ENSP00000281928.3:p.Thr839=
ENST00000548743.2:c.2487A>C	ENSP00000448553.2:p.Thr829=
ENST00000549786.2:c.1945A>C
ENST00000648173.1:n.1312A>C
ENST00000648379.1:n.885A>C
ENST00000648737.1:n.2281A>C
ENST00000648916.1:n.528A>C
ENST00000649607.1:c.704A>C
ENST00000650226.1:c.2517A>C	ENSP00000496981.1:p.Thr839=
ENST00000281928.7:c.2517A>C	ENSP00000281928.3:p.Thr839=
NM_015335.4:c.2517A>C	NP_056150.1:p.Thr839=
XM_011538080.1:c.2517A>C	XP_011536382.1:p.Thr839=
XM_011538081.1:c.2517A>C	XP_011536383.1:p.Thr839=
XM_011538082.1:c.2487A>C	XP_011536384.1:p.Thr829=
XM_011538080.2:c.2517A>C	XP_011536382.1:p.Thr839=
XM_011538081.2:c.2517A>C	XP_011536383.1:p.Thr839=
XM_011538082.2:c.2487A>C	XP_011536384.1:p.Thr829=
XM_017019090.1:c.2517A>C	XP_016874579.1:p.Thr839=
NM_015335.5:c.2517A>C MANE Select	NP_056150.1:p.Thr839=