Canonical Allele Identifier: CA386927132

Gene: MED13L

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116111493C>T , CM000674.2:g.116111493C>T	GRCh38
NC_000012.11:g.116549298C>T , CM000674.1:g.116549298C>T	GRCh37
NC_000012.10:g.115033681C>T	NCBI36
NG_023366.1:g.170694G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.330G>A MANE Select	ENSP00000281928.3:p.Trp110Ter
ENST00000548743.2:c.300G>A	ENSP00000448553.2:p.Trp100Ter
ENST00000551197.2:c.280G>A
ENST00000647567.1:c.240G>A	ENSP00000497136.1:p.Trp80Ter
ENST00000650226.1:c.330G>A	ENSP00000496981.1:p.Trp110Ter
ENST00000281928.7:c.330G>A	ENSP00000281928.3:p.Trp110Ter
ENST00000551197.1:n.280G>A
NM_015335.4:c.330G>A	NP_056150.1:p.Trp110Ter
XM_011538080.1:c.330G>A	XP_011536382.1:p.Trp110Ter
XM_011538081.1:c.330G>A	XP_011536383.1:p.Trp110Ter
XM_011538082.1:c.300G>A	XP_011536384.1:p.Trp100Ter
XM_011538080.2:c.330G>A	XP_011536382.1:p.Trp110Ter
XM_011538081.2:c.330G>A	XP_011536383.1:p.Trp110Ter
XM_011538082.2:c.300G>A	XP_011536384.1:p.Trp100Ter
XM_017019090.1:c.330G>A	XP_016874579.1:p.Trp110Ter
NM_015335.5:c.330G>A MANE Select	NP_056150.1:p.Trp110Ter