Canonical Allele Identifier: CA6810687

Gene: MED13L

Linked Data

• ClinVar Variation Id: 2043553
• ClinVar RCV Id: RCV002913080
• dbSNP Id: rs756163418
• ExAC: 12:116420402 T / C
• gnomAD v2: 12-116420402-T-C
• gnomAD v3: 12-115982597-T-C
• gnomAD v4: 12-115982597-T-C
• MyVariant Identifiers: chr12:g.116420402T>C (hg19) ; chr12:g.115982597T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982597T>C , CM000674.2:g.115982597T>C	GRCh38
NC_000012.11:g.116420402T>C , CM000674.1:g.116420402T>C	GRCh37
NC_000012.10:g.114904785T>C	NCBI36
NG_023366.1:g.299590A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4962A>G MANE Select	ENSP00000281928.3:p.Thr1654=
ENST00000549786.2:c.4390A>G
ENST00000648379.1:n.3330A>G
ENST00000648737.1:n.4726A>G
ENST00000648825.1:n.1702A>G
ENST00000648916.1:n.2973A>G
ENST00000649146.1:n.2205A>G
ENST00000649607.1:c.3146A>G
ENST00000649775.1:c.1453-2A>G
ENST00000650226.1:c.4962A>G	ENSP00000496981.1:p.Thr1654=
ENST00000281928.7:c.4962A>G	ENSP00000281928.3:p.Thr1654=
ENST00000549786.1:c.326A>G
NM_015335.4:c.4962A>G	NP_056150.1:p.Thr1654=
XM_011538080.1:c.4962A>G	XP_011536382.1:p.Thr1654=
XM_011538081.1:c.4959A>G	XP_011536383.1:p.Thr1653=
XM_011538082.1:c.4932A>G	XP_011536384.1:p.Thr1644=
XM_011538080.2:c.4962A>G	XP_011536382.1:p.Thr1654=
XM_011538081.2:c.4959A>G	XP_011536383.1:p.Thr1653=
XM_011538082.2:c.4932A>G	XP_011536384.1:p.Thr1644=
XM_017019090.1:c.4959A>G	XP_016874579.1:p.Thr1653=
NM_015335.5:c.4962A>G MANE Select	NP_056150.1:p.Thr1654=