Canonical Allele Identifier: CA2621143782

Gene: MED13L

Linked Data

• gnomAD v4: 12-115975340-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975340G>T , CM000674.2:g.115975340G>T	GRCh38
NC_000012.11:g.116413145G>T , CM000674.1:g.116413145G>T	GRCh37
NC_000012.10:g.114897528G>T	NCBI36
NG_023366.1:g.306847C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5589-27C>A MANE Select	ENSP00000281928.3:n.5589-27C>A
ENST00000548694.2:n.552C>A
ENST00000648379.1:n.3957-27C>A
ENST00000648737.1:n.5353-27C>A
ENST00000648825.1:n.3774-27C>A
ENST00000648916.1:n.3600-27C>A
ENST00000649607.1:c.3773-27C>A
ENST00000649775.1:c.2078-27C>A
ENST00000650226.1:c.5598C>A	ENSP00000496981.1:p.Phe1866Leu
ENST00000281928.7:c.5589-27C>A	ENSP00000281928.3:n.5589-27C>A
ENST00000548694.1:n.552C>A
ENST00000552447.1:c.175C>A
NM_015335.4:c.5589-27C>A	NP_056150.1:n.5589-27C>A
XM_011538080.1:c.5598C>A	XP_011536382.1:p.Phe1866Leu
XM_011538081.1:c.5595C>A	XP_011536383.1:p.Phe1865Leu
XM_011538082.1:c.5568C>A	XP_011536384.1:p.Phe1856Leu
XM_011538080.2:c.5598C>A	XP_011536382.1:p.Phe1866Leu
XM_011538081.2:c.5595C>A	XP_011536383.1:p.Phe1865Leu
XM_011538082.2:c.5568C>A	XP_011536384.1:p.Phe1856Leu
XM_017019090.1:c.5586-27C>A	XP_016874579.1:n.5586-27C>A
NM_015335.5:c.5589-27C>A MANE Select	NP_056150.1:n.5589-27C>A