Canonical Allele Identifier: CA386878454

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116413064C>A (hg19) ; chr12:g.115975259C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975259C>A , CM000674.2:g.115975259C>A	GRCh38
NC_000012.11:g.116413064C>A , CM000674.1:g.116413064C>A	GRCh37
NC_000012.10:g.114897447C>A	NCBI36
NG_023366.1:g.306928G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5643G>T MANE Select	ENSP00000281928.3:p.Glu1881Asp
ENST00000548694.2:n.633G>T
ENST00000648379.1:n.4011G>T
ENST00000648737.1:n.5407G>T
ENST00000648825.1:n.3828G>T
ENST00000648916.1:n.3654G>T
ENST00000649607.1:c.3827G>T
ENST00000649775.1:c.2132G>T
ENST00000650226.1:c.5679G>T	ENSP00000496981.1:p.Glu1893Asp
ENST00000281928.7:c.5643G>T	ENSP00000281928.3:p.Glu1881Asp
ENST00000548694.1:n.633G>T
ENST00000552447.1:c.256G>T
NM_015335.4:c.5643G>T	NP_056150.1:p.Glu1881Asp
XM_011538080.1:c.5679G>T	XP_011536382.1:p.Glu1893Asp
XM_011538081.1:c.5676G>T	XP_011536383.1:p.Glu1892Asp
XM_011538082.1:c.5649G>T	XP_011536384.1:p.Glu1883Asp
XM_011538080.2:c.5679G>T	XP_011536382.1:p.Glu1893Asp
XM_011538081.2:c.5676G>T	XP_011536383.1:p.Glu1892Asp
XM_011538082.2:c.5649G>T	XP_011536384.1:p.Glu1883Asp
XM_017019090.1:c.5640G>T	XP_016874579.1:p.Glu1880Asp
NM_015335.5:c.5643G>T MANE Select	NP_056150.1:p.Glu1881Asp