Canonical Allele Identifier: CA386878484

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116413069A>C (hg19) ; chr12:g.115975264A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975264A>C , CM000674.2:g.115975264A>C	GRCh38
NC_000012.11:g.116413069A>C , CM000674.1:g.116413069A>C	GRCh37
NC_000012.10:g.114897452A>C	NCBI36
NG_023366.1:g.306923T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5638T>G MANE Select	ENSP00000281928.3:p.Trp1880Gly
ENST00000548694.2:n.628T>G
ENST00000648379.1:n.4006T>G
ENST00000648737.1:n.5402T>G
ENST00000648825.1:n.3823T>G
ENST00000648916.1:n.3649T>G
ENST00000649607.1:c.3822T>G
ENST00000649775.1:c.2127T>G
ENST00000650226.1:c.5674T>G	ENSP00000496981.1:p.Trp1892Gly
ENST00000281928.7:c.5638T>G	ENSP00000281928.3:p.Trp1880Gly
ENST00000548694.1:n.628T>G
ENST00000552447.1:c.251T>G
NM_015335.4:c.5638T>G	NP_056150.1:p.Trp1880Gly
XM_011538080.1:c.5674T>G	XP_011536382.1:p.Trp1892Gly
XM_011538081.1:c.5671T>G	XP_011536383.1:p.Trp1891Gly
XM_011538082.1:c.5644T>G	XP_011536384.1:p.Trp1882Gly
XM_011538080.2:c.5674T>G	XP_011536382.1:p.Trp1892Gly
XM_011538081.2:c.5671T>G	XP_011536383.1:p.Trp1891Gly
XM_011538082.2:c.5644T>G	XP_011536384.1:p.Trp1882Gly
XM_017019090.1:c.5635T>G	XP_016874579.1:p.Trp1879Gly
NM_015335.5:c.5638T>G MANE Select	NP_056150.1:p.Trp1880Gly