Canonical Allele Identifier: CA386881211

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420291C>G (hg19) ; chr12:g.115982486C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982486C>G , CM000674.2:g.115982486C>G	GRCh38
NC_000012.11:g.116420291C>G , CM000674.1:g.116420291C>G	GRCh37
NC_000012.10:g.114904674C>G	NCBI36
NG_023366.1:g.299701G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5073G>C MANE Select	ENSP00000281928.3:p.Glu1691Asp
ENST00000549786.2:c.4501G>C
ENST00000648379.1:n.3441G>C
ENST00000648737.1:n.4837G>C
ENST00000648825.1:n.1813G>C
ENST00000648916.1:n.3084G>C
ENST00000649146.1:n.2316G>C
ENST00000649607.1:c.3257G>C
ENST00000649775.1:c.1562G>C
ENST00000650226.1:c.5073G>C	ENSP00000496981.1:p.Glu1691Asp
ENST00000281928.7:c.5073G>C	ENSP00000281928.3:p.Glu1691Asp
ENST00000549786.1:c.437G>C
ENST00000552340.1:c.105G>C	ENSP00000449876.1:p.Glu35Asp
NM_015335.4:c.5073G>C	NP_056150.1:p.Glu1691Asp
XM_011538080.1:c.5073G>C	XP_011536382.1:p.Glu1691Asp
XM_011538081.1:c.5070G>C	XP_011536383.1:p.Glu1690Asp
XM_011538082.1:c.5043G>C	XP_011536384.1:p.Glu1681Asp
XM_011538080.2:c.5073G>C	XP_011536382.1:p.Glu1691Asp
XM_011538081.2:c.5070G>C	XP_011536383.1:p.Glu1690Asp
XM_011538082.2:c.5043G>C	XP_011536384.1:p.Glu1681Asp
XM_017019090.1:c.5070G>C	XP_016874579.1:p.Glu1690Asp
NM_015335.5:c.5073G>C MANE Select	NP_056150.1:p.Glu1691Asp