Canonical Allele Identifier: CA386881291

Gene: MED13L

Linked Data

• ClinVar Variation Id: 2500293
• ClinVar RCV Id: RCV003224951
• MyVariant Identifiers: chr12:g.116420325T>C (hg19) ; chr12:g.115982520T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982520T>C , CM000674.2:g.115982520T>C	GRCh38
NC_000012.11:g.116420325T>C , CM000674.1:g.116420325T>C	GRCh37
NC_000012.10:g.114904708T>C	NCBI36
NG_023366.1:g.299667A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5039A>G MANE Select	ENSP00000281928.3:p.Tyr1680Cys
ENST00000549786.2:c.4467A>G
ENST00000648379.1:n.3407A>G
ENST00000648737.1:n.4803A>G
ENST00000648825.1:n.1779A>G
ENST00000648916.1:n.3050A>G
ENST00000649146.1:n.2282A>G
ENST00000649607.1:c.3223A>G
ENST00000649775.1:c.1528A>G
ENST00000650226.1:c.5039A>G	ENSP00000496981.1:p.Tyr1680Cys
ENST00000281928.7:c.5039A>G	ENSP00000281928.3:p.Tyr1680Cys
ENST00000549786.1:c.403A>G
ENST00000552340.1:c.71A>G	ENSP00000449876.1:p.Tyr24Cys
NM_015335.4:c.5039A>G	NP_056150.1:p.Tyr1680Cys
XM_011538080.1:c.5039A>G	XP_011536382.1:p.Tyr1680Cys
XM_011538081.1:c.5036A>G	XP_011536383.1:p.Tyr1679Cys
XM_011538082.1:c.5009A>G	XP_011536384.1:p.Tyr1670Cys
XM_011538080.2:c.5039A>G	XP_011536382.1:p.Tyr1680Cys
XM_011538081.2:c.5036A>G	XP_011536383.1:p.Tyr1679Cys
XM_011538082.2:c.5009A>G	XP_011536384.1:p.Tyr1670Cys
XM_017019090.1:c.5036A>G	XP_016874579.1:p.Tyr1679Cys
NM_015335.5:c.5039A>G MANE Select	NP_056150.1:p.Tyr1680Cys