Canonical Allele Identifier: CA386878615

Gene: MED13L

Linked Data

• gnomAD v4: 12-115975285-T-C
• MyVariant Identifiers: chr12:g.116413090T>C (hg19) ; chr12:g.115975285T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975285T>C , CM000674.2:g.115975285T>C	GRCh38
NC_000012.11:g.116413090T>C , CM000674.1:g.116413090T>C	GRCh37
NC_000012.10:g.114897473T>C	NCBI36
NG_023366.1:g.306902A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5617A>G MANE Select	ENSP00000281928.3:p.Lys1873Glu
ENST00000548694.2:n.607A>G
ENST00000648379.1:n.3985A>G
ENST00000648737.1:n.5381A>G
ENST00000648825.1:n.3802A>G
ENST00000648916.1:n.3628A>G
ENST00000649607.1:c.3801A>G
ENST00000649775.1:c.2106A>G
ENST00000650226.1:c.5653A>G	ENSP00000496981.1:p.Lys1885Glu
ENST00000281928.7:c.5617A>G	ENSP00000281928.3:p.Lys1873Glu
ENST00000548694.1:n.607A>G
ENST00000552447.1:c.230A>G
NM_015335.4:c.5617A>G	NP_056150.1:p.Lys1873Glu
XM_011538080.1:c.5653A>G	XP_011536382.1:p.Lys1885Glu
XM_011538081.1:c.5650A>G	XP_011536383.1:p.Lys1884Glu
XM_011538082.1:c.5623A>G	XP_011536384.1:p.Lys1875Glu
XM_011538080.2:c.5653A>G	XP_011536382.1:p.Lys1885Glu
XM_011538081.2:c.5650A>G	XP_011536383.1:p.Lys1884Glu
XM_011538082.2:c.5623A>G	XP_011536384.1:p.Lys1875Glu
XM_017019090.1:c.5614A>G	XP_016874579.1:p.Lys1872Glu
NM_015335.5:c.5617A>G MANE Select	NP_056150.1:p.Lys1873Glu