Canonical Allele Identifier: CA386887682

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116429294C>G (hg19) ; chr12:g.115991489C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991489C>G , CM000674.2:g.115991489C>G	GRCh38
NC_000012.11:g.116429294C>G , CM000674.1:g.116429294C>G	GRCh37
NC_000012.10:g.114913677C>G	NCBI36
NG_023366.1:g.290698G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3465G>C MANE Select	ENSP00000281928.3:p.Glu1155Asp
ENST00000549786.2:c.2893G>C
ENST00000648379.1:n.1833G>C
ENST00000648737.1:n.3229G>C
ENST00000648825.1:n.205G>C
ENST00000648916.1:n.1476G>C
ENST00000649607.1:c.1649G>C
ENST00000650226.1:c.3465G>C	ENSP00000496981.1:p.Glu1155Asp
ENST00000281928.7:c.3465G>C	ENSP00000281928.3:p.Glu1155Asp
NM_015335.4:c.3465G>C	NP_056150.1:p.Glu1155Asp
XM_011538080.1:c.3465G>C	XP_011536382.1:p.Glu1155Asp
XM_011538081.1:c.3462G>C	XP_011536383.1:p.Glu1154Asp
XM_011538082.1:c.3435G>C	XP_011536384.1:p.Glu1145Asp
XM_011538080.2:c.3465G>C	XP_011536382.1:p.Glu1155Asp
XM_011538081.2:c.3462G>C	XP_011536383.1:p.Glu1154Asp
XM_011538082.2:c.3435G>C	XP_011536384.1:p.Glu1145Asp
XM_017019090.1:c.3462G>C	XP_016874579.1:p.Glu1154Asp
NM_015335.5:c.3465G>C MANE Select	NP_056150.1:p.Glu1155Asp