Canonical Allele Identifier: CA2065386051
Gene: MED13L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115991537G= , CM000674.2:g.115991537G= GRCh38
NC_000012.11:g.116429342G= , CM000674.1:g.116429342G= GRCh37
NC_000012.10:g.114913725G= NCBI36
NG_023366.1:g.290650C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.3417C= MANE Select ENSP00000281928.3:p.Asn1139=
ENST00000549786.2:c.2845C=
ENST00000648379.1:n.1785C=
ENST00000648737.1:n.3181C=
ENST00000648825.1:n.157C=
ENST00000648916.1:n.1428C=
ENST00000649607.1:c.1601C=
ENST00000650226.1:c.3417C= ENSP00000496981.1:p.Asn1139=
ENST00000281928.7:c.3417C= ENSP00000281928.3:p.Asn1139=
NM_015335.4:c.3417C= NP_056150.1:p.Asn1139=
XM_011538080.1:c.3417C= XP_011536382.1:p.Asn1139=
XM_011538081.1:c.3414C= XP_011536383.1:p.Asn1138=
XM_011538082.1:c.3387C= XP_011536384.1:p.Asn1129=
XM_011538080.2:c.3417C= XP_011536382.1:p.Asn1139=
XM_011538081.2:c.3414C= XP_011536383.1:p.Asn1138=
XM_011538082.2:c.3387C= XP_011536384.1:p.Asn1129=
XM_017019090.1:c.3414C= XP_016874579.1:p.Asn1138=
NM_015335.5:c.3417C= MANE Select NP_056150.1:p.Asn1139=