Canonical Allele Identifier: CA481943143

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408421T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970616T>C , CM000674.2:g.115970616T>C	GRCh38
NC_000012.11:g.116408421T>C , CM000674.1:g.116408421T>C	GRCh37
NC_000012.10:g.114892804T>C	NCBI36
NG_023366.1:g.311571A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.6045A>G MANE Select	ENSP00000281928.3:p.Glu2015=
ENST00000548784.2:n.2259A>G
ENST00000648379.1:n.4413A>G
ENST00000648737.1:n.5809A>G
ENST00000648825.1:n.4230A>G
ENST00000648916.1:n.4056A>G
ENST00000649607.1:c.4229A>G
ENST00000649775.1:c.2534A>G
ENST00000650226.1:c.6081A>G	ENSP00000496981.1:p.Glu2027=
ENST00000281928.7:c.6045A>G	ENSP00000281928.3:p.Glu2015=
NM_015335.4:c.6045A>G	NP_056150.1:p.Glu2015=
XM_011538080.1:c.6081A>G	XP_011536382.1:p.Glu2027=
XM_011538081.1:c.6078A>G	XP_011536383.1:p.Glu2026=
XM_011538082.1:c.6051A>G	XP_011536384.1:p.Glu2017=
XM_011538080.2:c.6081A>G	XP_011536382.1:p.Glu2027=
XM_011538081.2:c.6078A>G	XP_011536383.1:p.Glu2026=
XM_011538082.2:c.6051A>G	XP_011536384.1:p.Glu2017=
XM_017019090.1:c.6042A>G	XP_016874579.1:p.Glu2014=
NM_015335.5:c.6045A>G MANE Select	NP_056150.1:p.Glu2015=