Canonical Allele Identifier: CA6810670

Gene: MED13L

Linked Data

• dbSNP Id: rs560394918
• ExAC: 12:116420240 T / C
• gnomAD v2: 12-116420240-T-C
• gnomAD v3: 12-115982435-T-C
• gnomAD v4: 12-115982435-T-C
• MyVariant Identifiers: chr12:g.116420240T>C (hg19) ; chr12:g.115982435T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982435T>C , CM000674.2:g.115982435T>C	GRCh38
NC_000012.11:g.116420240T>C , CM000674.1:g.116420240T>C	GRCh37
NC_000012.10:g.114904623T>C	NCBI36
NG_023366.1:g.299752A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5124A>G MANE Select	ENSP00000281928.3:p.Thr1708=
ENST00000549786.2:c.4552A>G
ENST00000648379.1:n.3492A>G
ENST00000648737.1:n.4888A>G
ENST00000648825.1:n.1864A>G
ENST00000648916.1:n.3135A>G
ENST00000649146.1:n.2367A>G
ENST00000649607.1:c.3308A>G
ENST00000649775.1:c.1613A>G
ENST00000650226.1:c.5124A>G	ENSP00000496981.1:p.Thr1708=
ENST00000281928.7:c.5124A>G	ENSP00000281928.3:p.Thr1708=
ENST00000549786.1:c.488A>G
ENST00000552340.1:c.156A>G	ENSP00000449876.1:p.Thr52=
NM_015335.4:c.5124A>G	NP_056150.1:p.Thr1708=
XM_011538080.1:c.5124A>G	XP_011536382.1:p.Thr1708=
XM_011538081.1:c.5121A>G	XP_011536383.1:p.Thr1707=
XM_011538082.1:c.5094A>G	XP_011536384.1:p.Thr1698=
XM_011538080.2:c.5124A>G	XP_011536382.1:p.Thr1708=
XM_011538081.2:c.5121A>G	XP_011536383.1:p.Thr1707=
XM_011538082.2:c.5094A>G	XP_011536384.1:p.Thr1698=
XM_017019090.1:c.5121A>G	XP_016874579.1:p.Thr1707=
NM_015335.5:c.5124A>G MANE Select	NP_056150.1:p.Thr1708=