Canonical Allele Identifier: CA6810679

Gene: MED13L

Linked Data

• ClinVar Variation Id: 698346
• ClinVar RCV Id: RCV000865717 ; RCV002536280
• dbSNP Id: rs74757206
• ExAC: 12:116420306 C / T
• gnomAD v2: 12-116420306-C-T
• gnomAD v3: 12-115982501-C-T
• gnomAD v4: 12-115982501-C-T
• MyVariant Identifiers: chr12:g.116420306C>T (hg19) ; chr12:g.115982501C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982501C>T , CM000674.2:g.115982501C>T	GRCh38
NC_000012.11:g.116420306C>T , CM000674.1:g.116420306C>T	GRCh37
NC_000012.10:g.114904689C>T	NCBI36
NG_023366.1:g.299686G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5058G>A MANE Select	ENSP00000281928.3:p.Thr1686=
ENST00000549786.2:c.4486G>A
ENST00000648379.1:n.3426G>A
ENST00000648737.1:n.4822G>A
ENST00000648825.1:n.1798G>A
ENST00000648916.1:n.3069G>A
ENST00000649146.1:n.2301G>A
ENST00000649607.1:c.3242G>A
ENST00000649775.1:c.1547G>A
ENST00000650226.1:c.5058G>A	ENSP00000496981.1:p.Thr1686=
ENST00000281928.7:c.5058G>A	ENSP00000281928.3:p.Thr1686=
ENST00000549786.1:c.422G>A
ENST00000552340.1:c.90G>A	ENSP00000449876.1:p.Thr30=
NM_015335.4:c.5058G>A	NP_056150.1:p.Thr1686=
XM_011538080.1:c.5058G>A	XP_011536382.1:p.Thr1686=
XM_011538081.1:c.5055G>A	XP_011536383.1:p.Thr1685=
XM_011538082.1:c.5028G>A	XP_011536384.1:p.Thr1676=
XM_011538080.2:c.5058G>A	XP_011536382.1:p.Thr1686=
XM_011538081.2:c.5055G>A	XP_011536383.1:p.Thr1685=
XM_011538082.2:c.5028G>A	XP_011536384.1:p.Thr1676=
XM_017019090.1:c.5055G>A	XP_016874579.1:p.Thr1685=
NM_015335.5:c.5058G>A MANE Select	NP_056150.1:p.Thr1686=