Canonical Allele Identifier: CA386876575

Gene: MED13L

Linked Data

• ClinVar Variation Id: 2576424
• ClinVar RCV Id: RCV003322483
• COSMIC: COSM935526
• MyVariant Identifiers: chr12:g.116408546G>A (hg19) ; chr12:g.115970741G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970741G>A , CM000674.2:g.115970741G>A	GRCh38
NC_000012.11:g.116408546G>A , CM000674.1:g.116408546G>A	GRCh37
NC_000012.10:g.114892929G>A	NCBI36
NG_023366.1:g.311446C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5920C>T MANE Select	ENSP00000281928.3:p.Arg1974Ter
ENST00000548784.2:n.2134C>T
ENST00000648379.1:n.4288C>T
ENST00000648737.1:n.5684C>T
ENST00000648825.1:n.4105C>T
ENST00000648916.1:n.3931C>T
ENST00000649607.1:c.4104C>T
ENST00000649775.1:c.2409C>T
ENST00000650226.1:c.5956C>T	ENSP00000496981.1:p.Arg1986Ter
ENST00000281928.7:c.5920C>T	ENSP00000281928.3:p.Arg1974Ter
ENST00000548784.1:n.418C>T
ENST00000552447.1:c.533C>T
NM_015335.4:c.5920C>T	NP_056150.1:p.Arg1974Ter
XM_011538080.1:c.5956C>T	XP_011536382.1:p.Arg1986Ter
XM_011538081.1:c.5953C>T	XP_011536383.1:p.Arg1985Ter
XM_011538082.1:c.5926C>T	XP_011536384.1:p.Arg1976Ter
XM_011538080.2:c.5956C>T	XP_011536382.1:p.Arg1986Ter
XM_011538081.2:c.5953C>T	XP_011536383.1:p.Arg1985Ter
XM_011538082.2:c.5926C>T	XP_011536384.1:p.Arg1976Ter
XM_017019090.1:c.5917C>T	XP_016874579.1:p.Arg1973Ter
NM_015335.5:c.5920C>T MANE Select	NP_056150.1:p.Arg1974Ter