Canonical Allele Identifier: CA2065396602
Gene: MED13L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115997049C= , CM000674.2:g.115997049C= GRCh38
NC_000012.11:g.116434854C= , CM000674.1:g.116434854C= GRCh37
NC_000012.10:g.114919237C= NCBI36
NG_023366.1:g.285138G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.2751G= MANE Select ENSP00000281928.3:p.Val917=
ENST00000548743.2:c.2721G= ENSP00000448553.2:p.Val907=
ENST00000549786.2:c.2179G=
ENST00000647927.1:n.3124G=
ENST00000648173.1:n.1546G=
ENST00000648379.1:n.1119G=
ENST00000648737.1:n.2515G=
ENST00000648916.1:n.762G=
ENST00000649607.1:c.935G=
ENST00000650226.1:c.2751G= ENSP00000496981.1:p.Val917=
ENST00000281928.7:c.2751G= ENSP00000281928.3:p.Val917=
NM_015335.4:c.2751G= NP_056150.1:p.Val917=
XM_011538080.1:c.2751G= XP_011536382.1:p.Val917=
XM_011538081.1:c.2748G= XP_011536383.1:p.Val916=
XM_011538082.1:c.2721G= XP_011536384.1:p.Val907=
XM_011538080.2:c.2751G= XP_011536382.1:p.Val917=
XM_011538081.2:c.2748G= XP_011536383.1:p.Val916=
XM_011538082.2:c.2721G= XP_011536384.1:p.Val907=
XM_017019090.1:c.2748G= XP_016874579.1:p.Val916=
NM_015335.5:c.2751G= MANE Select NP_056150.1:p.Val917=