Canonical Allele Identifier: CA481946744

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420398T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982593T>G , CM000674.2:g.115982593T>G	GRCh38
NC_000012.11:g.116420398T>G , CM000674.1:g.116420398T>G	GRCh37
NC_000012.10:g.114904781T>G	NCBI36
NG_023366.1:g.299594A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4966A>C MANE Select	ENSP00000281928.3:p.Arg1656=
ENST00000549786.2:c.4394A>C
ENST00000648379.1:n.3334A>C
ENST00000648737.1:n.4730A>C
ENST00000648825.1:n.1706A>C
ENST00000648916.1:n.2977A>C
ENST00000649146.1:n.2209A>C
ENST00000649607.1:c.3150A>C
ENST00000649775.1:c.1455A>C
ENST00000650226.1:c.4966A>C	ENSP00000496981.1:p.Arg1656=
ENST00000281928.7:c.4966A>C	ENSP00000281928.3:p.Arg1656=
ENST00000549786.1:c.330A>C
NM_015335.4:c.4966A>C	NP_056150.1:p.Arg1656=
XM_011538080.1:c.4966A>C	XP_011536382.1:p.Arg1656=
XM_011538081.1:c.4963A>C	XP_011536383.1:p.Arg1655=
XM_011538082.1:c.4936A>C	XP_011536384.1:p.Arg1646=
XM_011538080.2:c.4966A>C	XP_011536382.1:p.Arg1656=
XM_011538081.2:c.4963A>C	XP_011536383.1:p.Arg1655=
XM_011538082.2:c.4936A>C	XP_011536384.1:p.Arg1646=
XM_017019090.1:c.4963A>C	XP_016874579.1:p.Arg1655=
NM_015335.5:c.4966A>C MANE Select	NP_056150.1:p.Arg1656=