Canonical Allele Identifier: CA386893304

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116006317G>A , CM000674.2:g.116006317G>A	GRCh38
NC_000012.11:g.116444122G>A , CM000674.1:g.116444122G>A	GRCh37
NC_000012.10:g.114928505G>A	NCBI36
NG_023366.1:g.275870C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2333C>T MANE Select	ENSP00000281928.3:p.Ala778Val
ENST00000548743.2:c.2303C>T	ENSP00000448553.2:p.Ala768Val
ENST00000549786.2:c.1761C>T
ENST00000648173.1:n.1128C>T
ENST00000648737.1:n.2097C>T
ENST00000648916.1:n.32C>T
ENST00000649607.1:c.520C>T
ENST00000649655.1:n.1935C>T
ENST00000650226.1:c.2333C>T	ENSP00000496981.1:p.Ala778Val
ENST00000650443.1:n.1349C>T
ENST00000281928.7:c.2333C>T	ENSP00000281928.3:p.Ala778Val
NM_015335.4:c.2333C>T	NP_056150.1:p.Ala778Val
XM_011538080.1:c.2333C>T	XP_011536382.1:p.Ala778Val
XM_011538081.1:c.2333C>T	XP_011536383.1:p.Ala778Val
XM_011538082.1:c.2303C>T	XP_011536384.1:p.Ala768Val
XM_011538080.2:c.2333C>T	XP_011536382.1:p.Ala778Val
XM_011538081.2:c.2333C>T	XP_011536383.1:p.Ala778Val
XM_011538082.2:c.2303C>T	XP_011536384.1:p.Ala768Val
XM_017019090.1:c.2333C>T	XP_016874579.1:p.Ala778Val
NM_015335.5:c.2333C>T MANE Select	NP_056150.1:p.Ala778Val