Canonical Allele Identifier: CA481948805

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116429624G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991819G>A , CM000674.2:g.115991819G>A	GRCh38
NC_000012.11:g.116429624G>A , CM000674.1:g.116429624G>A	GRCh37
NC_000012.10:g.114914007G>A	NCBI36
NG_023366.1:g.290368C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3135C>T MANE Select	ENSP00000281928.3:p.Arg1045=
ENST00000548743.2:c.3105C>T	ENSP00000448553.2:p.Arg1035=
ENST00000549786.2:c.2563C>T
ENST00000648173.1:n.1930C>T
ENST00000648379.1:n.1503C>T
ENST00000648737.1:n.2899C>T
ENST00000648916.1:n.1146C>T
ENST00000649607.1:c.1319C>T
ENST00000650226.1:c.3135C>T	ENSP00000496981.1:p.Arg1045=
ENST00000281928.7:c.3135C>T	ENSP00000281928.3:p.Arg1045=
NM_015335.4:c.3135C>T	NP_056150.1:p.Arg1045=
XM_011538080.1:c.3135C>T	XP_011536382.1:p.Arg1045=
XM_011538081.1:c.3132C>T	XP_011536383.1:p.Arg1044=
XM_011538082.1:c.3105C>T	XP_011536384.1:p.Arg1035=
XM_011538080.2:c.3135C>T	XP_011536382.1:p.Arg1045=
XM_011538081.2:c.3132C>T	XP_011536383.1:p.Arg1044=
XM_011538082.2:c.3105C>T	XP_011536384.1:p.Arg1035=
XM_017019090.1:c.3132C>T	XP_016874579.1:p.Arg1044=
NM_015335.5:c.3135C>T MANE Select	NP_056150.1:p.Arg1045=