Canonical Allele Identifier: CA481946344

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420297T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982492T>G , CM000674.2:g.115982492T>G	GRCh38
NC_000012.11:g.116420297T>G , CM000674.1:g.116420297T>G	GRCh37
NC_000012.10:g.114904680T>G	NCBI36
NG_023366.1:g.299695A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5067A>C MANE Select	ENSP00000281928.3:p.Ala1689=
ENST00000549786.2:c.4495A>C
ENST00000648379.1:n.3435A>C
ENST00000648737.1:n.4831A>C
ENST00000648825.1:n.1807A>C
ENST00000648916.1:n.3078A>C
ENST00000649146.1:n.2310A>C
ENST00000649607.1:c.3251A>C
ENST00000649775.1:c.1556A>C
ENST00000650226.1:c.5067A>C	ENSP00000496981.1:p.Ala1689=
ENST00000281928.7:c.5067A>C	ENSP00000281928.3:p.Ala1689=
ENST00000549786.1:c.431A>C
ENST00000552340.1:c.99A>C	ENSP00000449876.1:p.Ala33=
NM_015335.4:c.5067A>C	NP_056150.1:p.Ala1689=
XM_011538080.1:c.5067A>C	XP_011536382.1:p.Ala1689=
XM_011538081.1:c.5064A>C	XP_011536383.1:p.Ala1688=
XM_011538082.1:c.5037A>C	XP_011536384.1:p.Ala1679=
XM_011538080.2:c.5067A>C	XP_011536382.1:p.Ala1689=
XM_011538081.2:c.5064A>C	XP_011536383.1:p.Ala1688=
XM_011538082.2:c.5037A>C	XP_011536384.1:p.Ala1679=
XM_017019090.1:c.5064A>C	XP_016874579.1:p.Ala1688=
NM_015335.5:c.5067A>C MANE Select	NP_056150.1:p.Ala1689=