Canonical Allele Identifier: CA386876194

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408453T>G (hg19) ; chr12:g.115970648T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970648T>G , CM000674.2:g.115970648T>G	GRCh38
NC_000012.11:g.116408453T>G , CM000674.1:g.116408453T>G	GRCh37
NC_000012.10:g.114892836T>G	NCBI36
NG_023366.1:g.311539A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.6013A>C MANE Select	ENSP00000281928.3:p.Ile2005Leu
ENST00000548784.2:n.2227A>C
ENST00000648379.1:n.4381A>C
ENST00000648737.1:n.5777A>C
ENST00000648825.1:n.4198A>C
ENST00000648916.1:n.4024A>C
ENST00000649607.1:c.4197A>C
ENST00000649775.1:c.2502A>C
ENST00000650226.1:c.6049A>C	ENSP00000496981.1:p.Ile2017Leu
ENST00000281928.7:c.6013A>C	ENSP00000281928.3:p.Ile2005Leu
NM_015335.4:c.6013A>C	NP_056150.1:p.Ile2005Leu
XM_011538080.1:c.6049A>C	XP_011536382.1:p.Ile2017Leu
XM_011538081.1:c.6046A>C	XP_011536383.1:p.Ile2016Leu
XM_011538082.1:c.6019A>C	XP_011536384.1:p.Ile2007Leu
XM_011538080.2:c.6049A>C	XP_011536382.1:p.Ile2017Leu
XM_011538081.2:c.6046A>C	XP_011536383.1:p.Ile2016Leu
XM_011538082.2:c.6019A>C	XP_011536384.1:p.Ile2007Leu
XM_017019090.1:c.6010A>C	XP_016874579.1:p.Ile2004Leu
NM_015335.5:c.6013A>C MANE Select	NP_056150.1:p.Ile2005Leu