Canonical Allele Identifier: CA481946084

Gene: MED13L

Linked Data

• dbSNP Id: rs1877393820
• gnomAD v3: 12-115982450-C-T
• gnomAD v4: 12-115982450-C-T
• MyVariant Identifiers: chr12:g.116420255C>T (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5109G>A MANE Select	ENSP00000281928.3:p.Leu1703=
ENST00000549786.2:c.4537G>A
ENST00000648379.1:n.3477G>A
ENST00000648737.1:n.4873G>A
ENST00000648825.1:n.1849G>A
ENST00000648916.1:n.3120G>A
ENST00000649146.1:n.2352G>A
ENST00000649607.1:c.3293G>A
ENST00000649775.1:c.1598G>A
ENST00000650226.1:c.5109G>A	ENSP00000496981.1:p.Leu1703=
ENST00000281928.7:c.5109G>A	ENSP00000281928.3:p.Leu1703=
ENST00000549786.1:c.473G>A
ENST00000552340.1:c.141G>A	ENSP00000449876.1:p.Leu47=
NM_015335.4:c.5109G>A	NP_056150.1:p.Leu1703=
XM_011538080.1:c.5109G>A	XP_011536382.1:p.Leu1703=
XM_011538081.1:c.5106G>A	XP_011536383.1:p.Leu1702=
XM_011538082.1:c.5079G>A	XP_011536384.1:p.Leu1693=
XM_011538080.2:c.5109G>A	XP_011536382.1:p.Leu1703=
XM_011538081.2:c.5106G>A	XP_011536383.1:p.Leu1702=
XM_011538082.2:c.5079G>A	XP_011536384.1:p.Leu1693=
XM_017019090.1:c.5106G>A	XP_016874579.1:p.Leu1702=
NM_015335.5:c.5109G>A MANE Select	NP_056150.1:p.Leu1703=