Canonical Allele Identifier: CA2739392317

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975339G>C , CM000674.2:g.115975339G>C	GRCh38
NC_000012.11:g.116413144G>C , CM000674.1:g.116413144G>C	GRCh37
NC_000012.10:g.114897527G>C	NCBI36
NG_023366.1:g.306848C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5589-26C>G MANE Select	ENSP00000281928.3:n.5589-26C>G
ENST00000548694.2:n.553C>G
ENST00000648379.1:n.3957-26C>G
ENST00000648737.1:n.5353-26C>G
ENST00000648825.1:n.3774-26C>G
ENST00000648916.1:n.3600-26C>G
ENST00000649607.1:c.3773-26C>G
ENST00000649775.1:c.2078-26C>G
ENST00000650226.1:c.5599C>G	ENSP00000496981.1:p.Pro1867Ala
ENST00000281928.7:c.5589-26C>G	ENSP00000281928.3:n.5589-26C>G
ENST00000548694.1:n.553C>G
ENST00000552447.1:c.176C>G
NM_015335.4:c.5589-26C>G	NP_056150.1:n.5589-26C>G
XM_011538080.1:c.5599C>G	XP_011536382.1:p.Pro1867Ala
XM_011538081.1:c.5596C>G	XP_011536383.1:p.Pro1866Ala
XM_011538082.1:c.5569C>G	XP_011536384.1:p.Pro1857Ala
XM_011538080.2:c.5599C>G	XP_011536382.1:p.Pro1867Ala
XM_011538081.2:c.5596C>G	XP_011536383.1:p.Pro1866Ala
XM_011538082.2:c.5569C>G	XP_011536384.1:p.Pro1857Ala
XM_017019090.1:c.5586-26C>G	XP_016874579.1:n.5586-26C>G
NM_015335.5:c.5589-26C>G MANE Select	NP_056150.1:n.5589-26C>G