Canonical Allele Identifier: CA386890674
Gene: MED13L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115997116A>T , CM000674.2:g.115997116A>T GRCh38
NC_000012.11:g.116434921A>T , CM000674.1:g.116434921A>T GRCh37
NC_000012.10:g.114919304A>T NCBI36
NG_023366.1:g.285071T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000281928.9:c.2684T>A MANE Select ENSP00000281928.3:p.Leu895Ter
ENST00000548743.2:c.2654T>A ENSP00000448553.2:p.Leu885Ter
ENST00000549786.2:c.2112T>A
ENST00000647927.1:n.3057T>A
ENST00000648173.1:n.1479T>A
ENST00000648379.1:n.1052T>A
ENST00000648737.1:n.2448T>A
ENST00000648916.1:n.695T>A
ENST00000649607.1:c.868T>A
ENST00000650226.1:c.2684T>A ENSP00000496981.1:p.Leu895Ter
ENST00000281928.7:c.2684T>A ENSP00000281928.3:p.Leu895Ter
NM_015335.4:c.2684T>A NP_056150.1:p.Leu895Ter
XM_011538080.1:c.2684T>A XP_011536382.1:p.Leu895Ter
XM_011538081.1:c.2681T>A XP_011536383.1:p.Leu894Ter
XM_011538082.1:c.2654T>A XP_011536384.1:p.Leu885Ter
XM_011538080.2:c.2684T>A XP_011536382.1:p.Leu895Ter
XM_011538081.2:c.2681T>A XP_011536383.1:p.Leu894Ter
XM_011538082.2:c.2654T>A XP_011536384.1:p.Leu885Ter
XM_017019090.1:c.2681T>A XP_016874579.1:p.Leu894Ter
NM_015335.5:c.2684T>A MANE Select NP_056150.1:p.Leu895Ter