Canonical Allele Identifier: CA386890829

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116434989T>G (hg19) ; chr12:g.115997184T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997184T>G , CM000674.2:g.115997184T>G	GRCh38
NC_000012.11:g.116434989T>G , CM000674.1:g.116434989T>G	GRCh37
NC_000012.10:g.114919372T>G	NCBI36
NG_023366.1:g.285003A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2616A>C MANE Select	ENSP00000281928.3:p.Glu872Asp
ENST00000548743.2:c.2586A>C	ENSP00000448553.2:p.Glu862Asp
ENST00000549786.2:c.2044A>C
ENST00000647927.1:n.2989A>C
ENST00000648173.1:n.1411A>C
ENST00000648379.1:n.984A>C
ENST00000648737.1:n.2380A>C
ENST00000648916.1:n.627A>C
ENST00000649607.1:c.800A>C
ENST00000650226.1:c.2616A>C	ENSP00000496981.1:p.Glu872Asp
ENST00000281928.7:c.2616A>C	ENSP00000281928.3:p.Glu872Asp
NM_015335.4:c.2616A>C	NP_056150.1:p.Glu872Asp
XM_011538080.1:c.2616A>C	XP_011536382.1:p.Glu872Asp
XM_011538081.1:c.2613A>C	XP_011536383.1:p.Glu871Asp
XM_011538082.1:c.2586A>C	XP_011536384.1:p.Glu862Asp
XM_011538080.2:c.2616A>C	XP_011536382.1:p.Glu872Asp
XM_011538081.2:c.2613A>C	XP_011536383.1:p.Glu871Asp
XM_011538082.2:c.2586A>C	XP_011536384.1:p.Glu862Asp
XM_017019090.1:c.2613A>C	XP_016874579.1:p.Glu871Asp
NM_015335.5:c.2616A>C MANE Select	NP_056150.1:p.Glu872Asp