Canonical Allele Identifier: CA481946706

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420378G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982573G>C , CM000674.2:g.115982573G>C	GRCh38
NC_000012.11:g.116420378G>C , CM000674.1:g.116420378G>C	GRCh37
NC_000012.10:g.114904761G>C	NCBI36
NG_023366.1:g.299614C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4986C>G MANE Select	ENSP00000281928.3:p.Pro1662=
ENST00000549786.2:c.4414C>G
ENST00000648379.1:n.3354C>G
ENST00000648737.1:n.4750C>G
ENST00000648825.1:n.1726C>G
ENST00000648916.1:n.2997C>G
ENST00000649146.1:n.2229C>G
ENST00000649607.1:c.3170C>G
ENST00000649775.1:c.1475C>G
ENST00000650226.1:c.4986C>G	ENSP00000496981.1:p.Pro1662=
ENST00000281928.7:c.4986C>G	ENSP00000281928.3:p.Pro1662=
ENST00000549786.1:c.350C>G
ENST00000552340.1:c.18C>G	ENSP00000449876.1:p.Pro6=
NM_015335.4:c.4986C>G	NP_056150.1:p.Pro1662=
XM_011538080.1:c.4986C>G	XP_011536382.1:p.Pro1662=
XM_011538081.1:c.4983C>G	XP_011536383.1:p.Pro1661=
XM_011538082.1:c.4956C>G	XP_011536384.1:p.Pro1652=
XM_011538080.2:c.4986C>G	XP_011536382.1:p.Pro1662=
XM_011538081.2:c.4983C>G	XP_011536383.1:p.Pro1661=
XM_011538082.2:c.4956C>G	XP_011536384.1:p.Pro1652=
XM_017019090.1:c.4983C>G	XP_016874579.1:p.Pro1661=
NM_015335.5:c.4986C>G MANE Select	NP_056150.1:p.Pro1662=