Canonical Allele Identifier: CA386876445

Gene: MED13L

Linked Data

• ClinVar Variation Id: 3059583
• ClinVar RCV Id: RCV004542554
• dbSNP Id: rs1876522232
• COSMIC: COSM222260
• MyVariant Identifiers: chr12:g.116408516G>A (hg19) ; chr12:g.115970711G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970711G>A , CM000674.2:g.115970711G>A	GRCh38
NC_000012.11:g.116408516G>A , CM000674.1:g.116408516G>A	GRCh37
NC_000012.10:g.114892899G>A	NCBI36
NG_023366.1:g.311476C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5950C>T MANE Select	ENSP00000281928.3:p.Gln1984Ter
ENST00000548784.2:n.2164C>T
ENST00000648379.1:n.4318C>T
ENST00000648737.1:n.5714C>T
ENST00000648825.1:n.4135C>T
ENST00000648916.1:n.3961C>T
ENST00000649607.1:c.4134C>T
ENST00000649775.1:c.2439C>T
ENST00000650226.1:c.5986C>T	ENSP00000496981.1:p.Gln1996Ter
ENST00000281928.7:c.5950C>T	ENSP00000281928.3:p.Gln1984Ter
ENST00000548784.1:n.448C>T
ENST00000552447.1:c.563C>T
NM_015335.4:c.5950C>T	NP_056150.1:p.Gln1984Ter
XM_011538080.1:c.5986C>T	XP_011536382.1:p.Gln1996Ter
XM_011538081.1:c.5983C>T	XP_011536383.1:p.Gln1995Ter
XM_011538082.1:c.5956C>T	XP_011536384.1:p.Gln1986Ter
XM_011538080.2:c.5986C>T	XP_011536382.1:p.Gln1996Ter
XM_011538081.2:c.5983C>T	XP_011536383.1:p.Gln1995Ter
XM_011538082.2:c.5956C>T	XP_011536384.1:p.Gln1986Ter
XM_017019090.1:c.5947C>T	XP_016874579.1:p.Gln1983Ter
NM_015335.5:c.5950C>T MANE Select	NP_056150.1:p.Gln1984Ter