Canonical Allele Identifier: CA386878443

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116413063A>C (hg19) ; chr12:g.115975258A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975258A>C , CM000674.2:g.115975258A>C	GRCh38
NC_000012.11:g.116413063A>C , CM000674.1:g.116413063A>C	GRCh37
NC_000012.10:g.114897446A>C	NCBI36
NG_023366.1:g.306929T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5644T>G MANE Select	ENSP00000281928.3:p.Trp1882Gly
ENST00000548694.2:n.634T>G
ENST00000648379.1:n.4012T>G
ENST00000648737.1:n.5408T>G
ENST00000648825.1:n.3829T>G
ENST00000648916.1:n.3655T>G
ENST00000649607.1:c.3828T>G
ENST00000649775.1:c.2133T>G
ENST00000650226.1:c.5680T>G	ENSP00000496981.1:p.Trp1894Gly
ENST00000281928.7:c.5644T>G	ENSP00000281928.3:p.Trp1882Gly
ENST00000548694.1:n.634T>G
ENST00000552447.1:c.257T>G
NM_015335.4:c.5644T>G	NP_056150.1:p.Trp1882Gly
XM_011538080.1:c.5680T>G	XP_011536382.1:p.Trp1894Gly
XM_011538081.1:c.5677T>G	XP_011536383.1:p.Trp1893Gly
XM_011538082.1:c.5650T>G	XP_011536384.1:p.Trp1884Gly
XM_011538080.2:c.5680T>G	XP_011536382.1:p.Trp1894Gly
XM_011538081.2:c.5677T>G	XP_011536383.1:p.Trp1893Gly
XM_011538082.2:c.5650T>G	XP_011536384.1:p.Trp1884Gly
XM_017019090.1:c.5641T>G	XP_016874579.1:p.Trp1881Gly
NM_015335.5:c.5644T>G MANE Select	NP_056150.1:p.Trp1882Gly