Canonical Allele Identifier: CA386878543

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116413078G>T (hg19) ; chr12:g.115975273G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975273G>T , CM000674.2:g.115975273G>T	GRCh38
NC_000012.11:g.116413078G>T , CM000674.1:g.116413078G>T	GRCh37
NC_000012.10:g.114897461G>T	NCBI36
NG_023366.1:g.306914C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5629C>A MANE Select	ENSP00000281928.3:p.Gln1877Lys
ENST00000548694.2:n.619C>A
ENST00000648379.1:n.3997C>A
ENST00000648737.1:n.5393C>A
ENST00000648825.1:n.3814C>A
ENST00000648916.1:n.3640C>A
ENST00000649607.1:c.3813C>A
ENST00000649775.1:c.2118C>A
ENST00000650226.1:c.5665C>A	ENSP00000496981.1:p.Gln1889Lys
ENST00000281928.7:c.5629C>A	ENSP00000281928.3:p.Gln1877Lys
ENST00000548694.1:n.619C>A
ENST00000552447.1:c.242C>A
NM_015335.4:c.5629C>A	NP_056150.1:p.Gln1877Lys
XM_011538080.1:c.5665C>A	XP_011536382.1:p.Gln1889Lys
XM_011538081.1:c.5662C>A	XP_011536383.1:p.Gln1888Lys
XM_011538082.1:c.5635C>A	XP_011536384.1:p.Gln1879Lys
XM_011538080.2:c.5665C>A	XP_011536382.1:p.Gln1889Lys
XM_011538081.2:c.5662C>A	XP_011536383.1:p.Gln1888Lys
XM_011538082.2:c.5635C>A	XP_011536384.1:p.Gln1879Lys
XM_017019090.1:c.5626C>A	XP_016874579.1:p.Gln1876Lys
NM_015335.5:c.5629C>A MANE Select	NP_056150.1:p.Gln1877Lys