Canonical Allele Identifier: CA386881129

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420255C>A (hg19) ; chr12:g.115982450C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982450C>A , CM000674.2:g.115982450C>A	GRCh38
NC_000012.11:g.116420255C>A , CM000674.1:g.116420255C>A	GRCh37
NC_000012.10:g.114904638C>A	NCBI36
NG_023366.1:g.299737G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5109G>T MANE Select	ENSP00000281928.3:p.Leu1703Phe
ENST00000549786.2:c.4537G>T
ENST00000648379.1:n.3477G>T
ENST00000648737.1:n.4873G>T
ENST00000648825.1:n.1849G>T
ENST00000648916.1:n.3120G>T
ENST00000649146.1:n.2352G>T
ENST00000649607.1:c.3293G>T
ENST00000649775.1:c.1598G>T
ENST00000650226.1:c.5109G>T	ENSP00000496981.1:p.Leu1703Phe
ENST00000281928.7:c.5109G>T	ENSP00000281928.3:p.Leu1703Phe
ENST00000549786.1:c.473G>T
ENST00000552340.1:c.141G>T	ENSP00000449876.1:p.Leu47Phe
NM_015335.4:c.5109G>T	NP_056150.1:p.Leu1703Phe
XM_011538080.1:c.5109G>T	XP_011536382.1:p.Leu1703Phe
XM_011538081.1:c.5106G>T	XP_011536383.1:p.Leu1702Phe
XM_011538082.1:c.5079G>T	XP_011536384.1:p.Leu1693Phe
XM_011538080.2:c.5109G>T	XP_011536382.1:p.Leu1703Phe
XM_011538081.2:c.5106G>T	XP_011536383.1:p.Leu1702Phe
XM_011538082.2:c.5079G>T	XP_011536384.1:p.Leu1693Phe
XM_017019090.1:c.5106G>T	XP_016874579.1:p.Leu1702Phe
NM_015335.5:c.5109G>T MANE Select	NP_056150.1:p.Leu1703Phe