Canonical Allele Identifier: CA481944660

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116413001C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975196C>T , CM000674.2:g.115975196C>T	GRCh38
NC_000012.11:g.116413001C>T , CM000674.1:g.116413001C>T	GRCh37
NC_000012.10:g.114897384C>T	NCBI36
NG_023366.1:g.306991G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.5706G>A MANE Select	ENSP00000281928.3:p.Gly1902=
ENST00000548694.2:n.696G>A
ENST00000648379.1:n.4074G>A
ENST00000648737.1:n.5470G>A
ENST00000648825.1:n.3891G>A
ENST00000648916.1:n.3717G>A
ENST00000649607.1:c.3890G>A
ENST00000649775.1:c.2195G>A
ENST00000650226.1:c.5742G>A	ENSP00000496981.1:p.Gly1914=
ENST00000281928.7:c.5706G>A	ENSP00000281928.3:p.Gly1902=
ENST00000548694.1:n.696G>A
ENST00000552447.1:c.319G>A
NM_015335.4:c.5706G>A	NP_056150.1:p.Gly1902=
XM_011538080.1:c.5742G>A	XP_011536382.1:p.Gly1914=
XM_011538081.1:c.5739G>A	XP_011536383.1:p.Gly1913=
XM_011538082.1:c.5712G>A	XP_011536384.1:p.Gly1904=
XM_011538080.2:c.5742G>A	XP_011536382.1:p.Gly1914=
XM_011538081.2:c.5739G>A	XP_011536383.1:p.Gly1913=
XM_011538082.2:c.5712G>A	XP_011536384.1:p.Gly1904=
XM_017019090.1:c.5703G>A	XP_016874579.1:p.Gly1901=
NM_015335.5:c.5706G>A MANE Select	NP_056150.1:p.Gly1902=