Canonical Allele Identifier: CA386873803

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115963489G>A , CM000674.2:g.115963489G>A	GRCh38
NC_000012.11:g.116401294G>A , CM000674.1:g.116401294G>A	GRCh37
NC_000012.10:g.114885677G>A	NCBI36
NG_023366.1:g.318698C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015335.5:c.6418C>T MANE Select	NP_056150.1:p.Gln2140Ter
ENST00000281928.9:c.6418C>T MANE Select	ENSP00000281928.3:p.Gln2140Ter
NM_015335.4:c.6418C>T	NP_056150.1:p.Gln2140Ter
ENST00000281928.7:c.6418C>T	ENSP00000281928.3:p.Gln2140Ter
ENST00000548784.2:n.2632C>T
ENST00000648379.1:n.4786C>T
ENST00000648737.1:n.6182C>T
ENST00000648762.1:n.1108C>T
ENST00000648825.1:n.4603C>T
ENST00000648916.1:n.4429C>T
ENST00000649607.1:c.4602C>T
ENST00000649775.1:c.2749C>T
ENST00000649937.1:n.61C>T
ENST00000650226.1:c.6454C>T	ENSP00000496981.1:p.Gln2152Ter
XM_011538080.1:c.6454C>T	XP_011536382.1:p.Gln2152Ter
XM_011538080.2:c.6454C>T	XP_011536382.1:p.Gln2152Ter
XM_011538081.1:c.6451C>T	XP_011536383.1:p.Gln2151Ter
XM_011538081.2:c.6451C>T	XP_011536383.1:p.Gln2151Ter
XM_011538082.1:c.6424C>T	XP_011536384.1:p.Gln2142Ter
XM_011538082.2:c.6424C>T	XP_011536384.1:p.Gln2142Ter
XM_017019090.1:c.6415C>T	XP_016874579.1:p.Gln2139Ter