Canonical Allele Identifier: CA2065393804
Community Standard Title: NM_015335.5(MED13L):c.752A= (p.Glu251=)
Gene: MED13L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.116019846T= , CM000674.2:g.116019846T= GRCh38
NC_000012.11:g.116457651T= , CM000674.1:g.116457651T= GRCh37
NC_000012.10:g.114942034T= NCBI36
NG_023366.1:g.262341A=

Transcript Alleles

HGVS Amino-acid Change
NM_015335.5:c.752A= MANE Select NP_056150.1:p.Glu251=
ENST00000281928.9:c.752A= MANE Select ENSP00000281928.3:p.Glu251=
NM_015335.4:c.752A= NP_056150.1:p.Glu251=
ENST00000281928.7:c.752A= ENSP00000281928.3:p.Glu251=
ENST00000548743.2:c.722A= ENSP00000448553.2:p.Glu241=
ENST00000549786.2:c.180A=
ENST00000647567.1:c.662A= ENSP00000497136.1:p.Glu221=
ENST00000648737.1:n.516A=
ENST00000650226.1:c.752A= ENSP00000496981.1:p.Glu251=
XM_011538080.1:c.752A= XP_011536382.1:p.Glu251=
XM_011538080.2:c.752A= XP_011536382.1:p.Glu251=
XM_011538081.1:c.752A= XP_011536383.1:p.Glu251=
XM_011538081.2:c.752A= XP_011536383.1:p.Glu251=
XM_011538082.1:c.722A= XP_011536384.1:p.Glu241=
XM_011538082.2:c.722A= XP_011536384.1:p.Glu241=
XM_017019090.1:c.752A= XP_016874579.1:p.Glu251=