Canonical Allele Identifier: CA386878606

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116413089T>A (hg19) ; chr12:g.115975284T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975284T>A , CM000674.2:g.115975284T>A	GRCh38
NC_000012.11:g.116413089T>A , CM000674.1:g.116413089T>A	GRCh37
NC_000012.10:g.114897472T>A	NCBI36
NG_023366.1:g.306903A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5618A>T MANE Select	ENSP00000281928.3:p.Lys1873Ile
ENST00000548694.2:n.608A>T
ENST00000648379.1:n.3986A>T
ENST00000648737.1:n.5382A>T
ENST00000648825.1:n.3803A>T
ENST00000648916.1:n.3629A>T
ENST00000649607.1:c.3802A>T
ENST00000649775.1:c.2107A>T
ENST00000650226.1:c.5654A>T	ENSP00000496981.1:p.Lys1885Ile
ENST00000281928.7:c.5618A>T	ENSP00000281928.3:p.Lys1873Ile
ENST00000548694.1:n.608A>T
ENST00000552447.1:c.231A>T
NM_015335.4:c.5618A>T	NP_056150.1:p.Lys1873Ile
XM_011538080.1:c.5654A>T	XP_011536382.1:p.Lys1885Ile
XM_011538081.1:c.5651A>T	XP_011536383.1:p.Lys1884Ile
XM_011538082.1:c.5624A>T	XP_011536384.1:p.Lys1875Ile
XM_011538080.2:c.5654A>T	XP_011536382.1:p.Lys1885Ile
XM_011538081.2:c.5651A>T	XP_011536383.1:p.Lys1884Ile
XM_011538082.2:c.5624A>T	XP_011536384.1:p.Lys1875Ile
XM_017019090.1:c.5615A>T	XP_016874579.1:p.Lys1872Ile
NM_015335.5:c.5618A>T MANE Select	NP_056150.1:p.Lys1873Ile