Canonical Allele Identifier: CA6810545

Gene: MED13L

Linked Data

• dbSNP Id: rs777020453
• ExAC: 12:116413135 T / G
• MyVariant Identifiers: chr12:g.116413135T>G (hg19) ; chr12:g.115975330T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975330T>G , CM000674.2:g.115975330T>G	GRCh38
NC_000012.11:g.116413135T>G , CM000674.1:g.116413135T>G	GRCh37
NC_000012.10:g.114897518T>G	NCBI36
NG_023366.1:g.306857A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5589-17A>C MANE Select	ENSP00000281928.3:n.5589-17A>C
ENST00000548694.2:n.562A>C
ENST00000648379.1:n.3957-17A>C
ENST00000648737.1:n.5353-17A>C
ENST00000648825.1:n.3774-17A>C
ENST00000648916.1:n.3600-17A>C
ENST00000649607.1:c.3773-17A>C
ENST00000649775.1:c.2078-17A>C
ENST00000650226.1:c.5608A>C	ENSP00000496981.1:p.Ile1870Leu
ENST00000281928.7:c.5589-17A>C	ENSP00000281928.3:n.5589-17A>C
ENST00000548694.1:n.562A>C
ENST00000552447.1:c.185A>C
NM_015335.4:c.5589-17A>C	NP_056150.1:n.5589-17A>C
XM_011538080.1:c.5608A>C	XP_011536382.1:p.Ile1870Leu
XM_011538081.1:c.5605A>C	XP_011536383.1:p.Ile1869Leu
XM_011538082.1:c.5578A>C	XP_011536384.1:p.Ile1860Leu
XM_011538080.2:c.5608A>C	XP_011536382.1:p.Ile1870Leu
XM_011538081.2:c.5605A>C	XP_011536383.1:p.Ile1869Leu
XM_011538082.2:c.5578A>C	XP_011536384.1:p.Ile1860Leu
XM_017019090.1:c.5586-17A>C	XP_016874579.1:n.5586-17A>C
NM_015335.5:c.5589-17A>C MANE Select	NP_056150.1:n.5589-17A>C