Canonical Allele Identifier: CA2739392309

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975333G>A , CM000674.2:g.115975333G>A	GRCh38
NC_000012.11:g.116413138G>A , CM000674.1:g.116413138G>A	GRCh37
NC_000012.10:g.114897521G>A	NCBI36
NG_023366.1:g.306854C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5589-20C>T MANE Select	ENSP00000281928.3:n.5589-20C>T
ENST00000548694.2:n.559C>T
ENST00000648379.1:n.3957-20C>T
ENST00000648737.1:n.5353-20C>T
ENST00000648825.1:n.3774-20C>T
ENST00000648916.1:n.3600-20C>T
ENST00000649607.1:c.3773-20C>T
ENST00000649775.1:c.2078-20C>T
ENST00000650226.1:c.5605C>T	ENSP00000496981.1:p.Pro1869Ser
ENST00000281928.7:c.5589-20C>T	ENSP00000281928.3:n.5589-20C>T
ENST00000548694.1:n.559C>T
ENST00000552447.1:c.182C>T
NM_015335.4:c.5589-20C>T	NP_056150.1:n.5589-20C>T
XM_011538080.1:c.5605C>T	XP_011536382.1:p.Pro1869Ser
XM_011538081.1:c.5602C>T	XP_011536383.1:p.Pro1868Ser
XM_011538082.1:c.5575C>T	XP_011536384.1:p.Pro1859Ser
XM_011538080.2:c.5605C>T	XP_011536382.1:p.Pro1869Ser
XM_011538081.2:c.5602C>T	XP_011536383.1:p.Pro1868Ser
XM_011538082.2:c.5575C>T	XP_011536384.1:p.Pro1859Ser
XM_017019090.1:c.5586-20C>T	XP_016874579.1:n.5586-20C>T
NM_015335.5:c.5589-20C>T MANE Select	NP_056150.1:n.5589-20C>T