Canonical Allele Identifier: CA386881269

Gene: MED13L

Linked Data

• gnomAD v4: 12-115982511-T-C
• MyVariant Identifiers: chr12:g.116420316T>C (hg19) ; chr12:g.115982511T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982511T>C , CM000674.2:g.115982511T>C	GRCh38
NC_000012.11:g.116420316T>C , CM000674.1:g.116420316T>C	GRCh37
NC_000012.10:g.114904699T>C	NCBI36
NG_023366.1:g.299676A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.5048A>G MANE Select	ENSP00000281928.3:p.Asp1683Gly
ENST00000549786.2:c.4476A>G
ENST00000648379.1:n.3416A>G
ENST00000648737.1:n.4812A>G
ENST00000648825.1:n.1788A>G
ENST00000648916.1:n.3059A>G
ENST00000649146.1:n.2291A>G
ENST00000649607.1:c.3232A>G
ENST00000649775.1:c.1537A>G
ENST00000650226.1:c.5048A>G	ENSP00000496981.1:p.Asp1683Gly
ENST00000281928.7:c.5048A>G	ENSP00000281928.3:p.Asp1683Gly
ENST00000549786.1:c.412A>G
ENST00000552340.1:c.80A>G	ENSP00000449876.1:p.Asp27Gly
NM_015335.4:c.5048A>G	NP_056150.1:p.Asp1683Gly
XM_011538080.1:c.5048A>G	XP_011536382.1:p.Asp1683Gly
XM_011538081.1:c.5045A>G	XP_011536383.1:p.Asp1682Gly
XM_011538082.1:c.5018A>G	XP_011536384.1:p.Asp1673Gly
XM_011538080.2:c.5048A>G	XP_011536382.1:p.Asp1683Gly
XM_011538081.2:c.5045A>G	XP_011536383.1:p.Asp1682Gly
XM_011538082.2:c.5018A>G	XP_011536384.1:p.Asp1673Gly
XM_017019090.1:c.5045A>G	XP_016874579.1:p.Asp1682Gly
NM_015335.5:c.5048A>G MANE Select	NP_056150.1:p.Asp1683Gly