Canonical Allele Identifier: CA6810575

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975595C>T , CM000674.2:g.115975595C>T	GRCh38
NC_000012.11:g.116413400C>T , CM000674.1:g.116413400C>T	GRCh37
NC_000012.10:g.114897783C>T	NCBI36
NG_023366.1:g.306592G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5508G>A MANE Select	ENSP00000281928.3:p.Gln1836=
ENST00000548694.2:n.297G>A
ENST00000648379.1:n.3876G>A
ENST00000648737.1:n.5272G>A
ENST00000648825.1:n.3693G>A
ENST00000648916.1:n.3519G>A
ENST00000649607.1:c.3692G>A
ENST00000649775.1:c.1997G>A
ENST00000650226.1:c.5508G>A	ENSP00000496981.1:p.Gln1836=
ENST00000281928.7:c.5508G>A	ENSP00000281928.3:p.Gln1836=
ENST00000548694.1:n.297G>A
ENST00000552447.1:c.85G>A
NM_015335.4:c.5508G>A	NP_056150.1:p.Gln1836=
XM_011538080.1:c.5508G>A	XP_011536382.1:p.Gln1836=
XM_011538081.1:c.5505G>A	XP_011536383.1:p.Gln1835=
XM_011538082.1:c.5478G>A	XP_011536384.1:p.Gln1826=
XM_011538080.2:c.5508G>A	XP_011536382.1:p.Gln1836=
XM_011538081.2:c.5505G>A	XP_011536383.1:p.Gln1835=
XM_011538082.2:c.5478G>A	XP_011536384.1:p.Gln1826=
XM_017019090.1:c.5505G>A	XP_016874579.1:p.Gln1835=
NM_015335.5:c.5508G>A MANE Select	NP_056150.1:p.Gln1836=