Canonical Allele Identifier: CA481943222

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408517A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970712A>T , CM000674.2:g.115970712A>T	GRCh38
NC_000012.11:g.116408517A>T , CM000674.1:g.116408517A>T	GRCh37
NC_000012.10:g.114892900A>T	NCBI36
NG_023366.1:g.311475T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.5949T>A MANE Select	ENSP00000281928.3:p.Ser1983=
ENST00000548784.2:n.2163T>A
ENST00000648379.1:n.4317T>A
ENST00000648737.1:n.5713T>A
ENST00000648825.1:n.4134T>A
ENST00000648916.1:n.3960T>A
ENST00000649607.1:c.4133T>A
ENST00000649775.1:c.2438T>A
ENST00000650226.1:c.5985T>A	ENSP00000496981.1:p.Ser1995=
ENST00000281928.7:c.5949T>A	ENSP00000281928.3:p.Ser1983=
ENST00000548784.1:n.447T>A
ENST00000552447.1:c.562T>A
NM_015335.4:c.5949T>A	NP_056150.1:p.Ser1983=
XM_011538080.1:c.5985T>A	XP_011536382.1:p.Ser1995=
XM_011538081.1:c.5982T>A	XP_011536383.1:p.Ser1994=
XM_011538082.1:c.5955T>A	XP_011536384.1:p.Ser1985=
XM_011538080.2:c.5985T>A	XP_011536382.1:p.Ser1995=
XM_011538081.2:c.5982T>A	XP_011536383.1:p.Ser1994=
XM_011538082.2:c.5955T>A	XP_011536384.1:p.Ser1985=
XM_017019090.1:c.5946T>A	XP_016874579.1:p.Ser1982=
NM_015335.5:c.5949T>A MANE Select	NP_056150.1:p.Ser1983=