Canonical Allele Identifier: CA2065386071
Gene: MED13L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115991557T= , CM000674.2:g.115991557T= GRCh38
NC_000012.11:g.116429362T= , CM000674.1:g.116429362T= GRCh37
NC_000012.10:g.114913745T= NCBI36
NG_023366.1:g.290630A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.3397A= MANE Select ENSP00000281928.3:p.Ile1133=
ENST00000549786.2:c.2825A=
ENST00000648379.1:n.1765A=
ENST00000648737.1:n.3161A=
ENST00000648825.1:n.137A=
ENST00000648916.1:n.1408A=
ENST00000649607.1:c.1581A=
ENST00000650226.1:c.3397A= ENSP00000496981.1:p.Ile1133=
ENST00000281928.7:c.3397A= ENSP00000281928.3:p.Ile1133=
NM_015335.4:c.3397A= NP_056150.1:p.Ile1133=
XM_011538080.1:c.3397A= XP_011536382.1:p.Ile1133=
XM_011538081.1:c.3394A= XP_011536383.1:p.Ile1132=
XM_011538082.1:c.3367A= XP_011536384.1:p.Ile1123=
XM_011538080.2:c.3397A= XP_011536382.1:p.Ile1133=
XM_011538081.2:c.3394A= XP_011536383.1:p.Ile1132=
XM_011538082.2:c.3367A= XP_011536384.1:p.Ile1123=
XM_017019090.1:c.3394A= XP_016874579.1:p.Ile1132=
NM_015335.5:c.3397A= MANE Select NP_056150.1:p.Ile1133=