Canonical Allele Identifier: CA481945251

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975610A>G , CM000674.2:g.115975610A>G	GRCh38
NC_000012.11:g.116413415A>G , CM000674.1:g.116413415A>G	GRCh37
NC_000012.10:g.114897798A>G	NCBI36
NG_023366.1:g.306577T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5493T>C MANE Select	ENSP00000281928.3:p.Cys1831=
ENST00000548694.2:n.282T>C
ENST00000648379.1:n.3861T>C
ENST00000648737.1:n.5257T>C
ENST00000648825.1:n.3678T>C
ENST00000648916.1:n.3504T>C
ENST00000649607.1:c.3677T>C
ENST00000649775.1:c.1982T>C
ENST00000650226.1:c.5493T>C	ENSP00000496981.1:p.Cys1831=
ENST00000281928.7:c.5493T>C	ENSP00000281928.3:p.Cys1831=
ENST00000548694.1:n.282T>C
ENST00000552447.1:c.70T>C
NM_015335.4:c.5493T>C	NP_056150.1:p.Cys1831=
XM_011538080.1:c.5493T>C	XP_011536382.1:p.Cys1831=
XM_011538081.1:c.5490T>C	XP_011536383.1:p.Cys1830=
XM_011538082.1:c.5463T>C	XP_011536384.1:p.Cys1821=
XM_011538080.2:c.5493T>C	XP_011536382.1:p.Cys1831=
XM_011538081.2:c.5490T>C	XP_011536383.1:p.Cys1830=
XM_011538082.2:c.5463T>C	XP_011536384.1:p.Cys1821=
XM_017019090.1:c.5490T>C	XP_016874579.1:p.Cys1830=
NM_015335.5:c.5493T>C MANE Select	NP_056150.1:p.Cys1831=