Canonical Allele Identifier: CA386883690

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984294G>A , CM000674.2:g.115984294G>A	GRCh38
NC_000012.11:g.116422099G>A , CM000674.1:g.116422099G>A	GRCh37
NC_000012.10:g.114906482G>A	NCBI36
NG_023366.1:g.297893C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015335.5:c.4417C>T MANE Select	NP_056150.1:p.Gln1473Ter
ENST00000281928.9:c.4417C>T MANE Select	ENSP00000281928.3:p.Gln1473Ter
NM_015335.4:c.4417C>T	NP_056150.1:p.Gln1473Ter
ENST00000281928.7:c.4417C>T	ENSP00000281928.3:p.Gln1473Ter
ENST00000549786.2:c.3845C>T
ENST00000648379.1:n.2785C>T
ENST00000648737.1:n.4181C>T
ENST00000648825.1:n.1157C>T
ENST00000648916.1:n.2428C>T
ENST00000649146.1:n.1147C>T
ENST00000649607.1:c.2601C>T
ENST00000649775.1:c.914C>T
ENST00000650091.1:n.2393C>T
ENST00000650226.1:c.4417C>T	ENSP00000496981.1:p.Gln1473Ter
XM_011538080.1:c.4417C>T	XP_011536382.1:p.Gln1473Ter
XM_011538080.2:c.4417C>T	XP_011536382.1:p.Gln1473Ter
XM_011538081.1:c.4414C>T	XP_011536383.1:p.Gln1472Ter
XM_011538081.2:c.4414C>T	XP_011536383.1:p.Gln1472Ter
XM_011538082.1:c.4387C>T	XP_011536384.1:p.Gln1463Ter
XM_011538082.2:c.4387C>T	XP_011536384.1:p.Gln1463Ter
XM_017019090.1:c.4414C>T	XP_016874579.1:p.Gln1472Ter