Canonical Allele Identifier: CA2065365729

Gene: MED13L

Linked Data

• dbSNP Id: rs1878859729

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116003299T>A , CM000674.2:g.116003299T>A	GRCh38
NC_000012.11:g.116441104T>A , CM000674.1:g.116441104T>A	GRCh37
NC_000012.10:g.114925487T>A	NCBI36
NG_023366.1:g.278888A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2470-197A>T MANE Select	ENSP00000281928.3:n.2470-197A>T
ENST00000548743.2:c.2440-197A>T	ENSP00000448553.2:n.2440-197A>T
ENST00000549786.2:c.1898-197A>T
ENST00000648173.1:n.1265-197A>T
ENST00000648379.1:n.641A>T
ENST00000648737.1:n.2234-197A>T
ENST00000648916.1:n.481-197A>T
ENST00000649607.1:c.657-197A>T
ENST00000650226.1:c.2470-197A>T	ENSP00000496981.1:n.2470-197A>T
ENST00000281928.7:c.2470-197A>T	ENSP00000281928.3:n.2470-197A>T
NM_015335.4:c.2470-197A>T	NP_056150.1:n.2470-197A>T
XM_011538080.1:c.2470-197A>T	XP_011536382.1:n.2470-197A>T
XM_011538081.1:c.2470-197A>T	XP_011536383.1:n.2470-197A>T
XM_011538082.1:c.2440-197A>T	XP_011536384.1:n.2440-197A>T
XM_011538080.2:c.2470-197A>T	XP_011536382.1:n.2470-197A>T
XM_011538081.2:c.2470-197A>T	XP_011536383.1:n.2470-197A>T
XM_011538082.2:c.2440-197A>T	XP_011536384.1:n.2440-197A>T
XM_017019090.1:c.2470-197A>T	XP_016874579.1:n.2470-197A>T
NM_015335.5:c.2470-197A>T MANE Select	NP_056150.1:n.2470-197A>T