Canonical Allele Identifier: CA386878644

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116413098G>C (hg19) ; chr12:g.115975293G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975293G>C , CM000674.2:g.115975293G>C	GRCh38
NC_000012.11:g.116413098G>C , CM000674.1:g.116413098G>C	GRCh37
NC_000012.10:g.114897481G>C	NCBI36
NG_023366.1:g.306894C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5609C>G MANE Select	ENSP00000281928.3:p.Ser1870Cys
ENST00000548694.2:n.599C>G
ENST00000648379.1:n.3977C>G
ENST00000648737.1:n.5373C>G
ENST00000648825.1:n.3794C>G
ENST00000648916.1:n.3620C>G
ENST00000649607.1:c.3793C>G
ENST00000649775.1:c.2098C>G
ENST00000650226.1:c.5645C>G	ENSP00000496981.1:p.Ser1882Cys
ENST00000281928.7:c.5609C>G	ENSP00000281928.3:p.Ser1870Cys
ENST00000548694.1:n.599C>G
ENST00000552447.1:c.222C>G
NM_015335.4:c.5609C>G	NP_056150.1:p.Ser1870Cys
XM_011538080.1:c.5645C>G	XP_011536382.1:p.Ser1882Cys
XM_011538081.1:c.5642C>G	XP_011536383.1:p.Ser1881Cys
XM_011538082.1:c.5615C>G	XP_011536384.1:p.Ser1872Cys
XM_011538080.2:c.5645C>G	XP_011536382.1:p.Ser1882Cys
XM_011538081.2:c.5642C>G	XP_011536383.1:p.Ser1881Cys
XM_011538082.2:c.5615C>G	XP_011536384.1:p.Ser1872Cys
XM_017019090.1:c.5606C>G	XP_016874579.1:p.Ser1869Cys
NM_015335.5:c.5609C>G MANE Select	NP_056150.1:p.Ser1870Cys