Canonical Allele Identifier: CA386878143

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116412997G>T (hg19) ; chr12:g.115975192G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975192G>T , CM000674.2:g.115975192G>T	GRCh38
NC_000012.11:g.116412997G>T , CM000674.1:g.116412997G>T	GRCh37
NC_000012.10:g.114897380G>T	NCBI36
NG_023366.1:g.306995C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.5710C>A MANE Select	ENSP00000281928.3:p.Leu1904Ile
ENST00000548694.2:n.700C>A
ENST00000648379.1:n.4078C>A
ENST00000648737.1:n.5474C>A
ENST00000648825.1:n.3895C>A
ENST00000648916.1:n.3721C>A
ENST00000649607.1:c.3894C>A
ENST00000649775.1:c.2199C>A
ENST00000650226.1:c.5746C>A	ENSP00000496981.1:p.Leu1916Ile
ENST00000281928.7:c.5710C>A	ENSP00000281928.3:p.Leu1904Ile
ENST00000548694.1:n.700C>A
ENST00000552447.1:c.323C>A
NM_015335.4:c.5710C>A	NP_056150.1:p.Leu1904Ile
XM_011538080.1:c.5746C>A	XP_011536382.1:p.Leu1916Ile
XM_011538081.1:c.5743C>A	XP_011536383.1:p.Leu1915Ile
XM_011538082.1:c.5716C>A	XP_011536384.1:p.Leu1906Ile
XM_011538080.2:c.5746C>A	XP_011536382.1:p.Leu1916Ile
XM_011538081.2:c.5743C>A	XP_011536383.1:p.Leu1915Ile
XM_011538082.2:c.5716C>A	XP_011536384.1:p.Leu1906Ile
XM_017019090.1:c.5707C>A	XP_016874579.1:p.Leu1903Ile
NM_015335.5:c.5710C>A MANE Select	NP_056150.1:p.Leu1904Ile