Canonical Allele Identifier: CA386876096

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408411T>G (hg19) ; chr12:g.115970606T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970606T>G , CM000674.2:g.115970606T>G	GRCh38
NC_000012.11:g.116408411T>G , CM000674.1:g.116408411T>G	GRCh37
NC_000012.10:g.114892794T>G	NCBI36
NG_023366.1:g.311581A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.6055A>C MANE Select	ENSP00000281928.3:p.Ser2019Arg
ENST00000548784.2:n.2269A>C
ENST00000648379.1:n.4423A>C
ENST00000648737.1:n.5819A>C
ENST00000648825.1:n.4240A>C
ENST00000648916.1:n.4066A>C
ENST00000649607.1:c.4239A>C
ENST00000649775.1:c.2544A>C
ENST00000650226.1:c.6091A>C	ENSP00000496981.1:p.Ser2031Arg
ENST00000281928.7:c.6055A>C	ENSP00000281928.3:p.Ser2019Arg
NM_015335.4:c.6055A>C	NP_056150.1:p.Ser2019Arg
XM_011538080.1:c.6091A>C	XP_011536382.1:p.Ser2031Arg
XM_011538081.1:c.6088A>C	XP_011536383.1:p.Ser2030Arg
XM_011538082.1:c.6061A>C	XP_011536384.1:p.Ser2021Arg
XM_011538080.2:c.6091A>C	XP_011536382.1:p.Ser2031Arg
XM_011538081.2:c.6088A>C	XP_011536383.1:p.Ser2030Arg
XM_011538082.2:c.6061A>C	XP_011536384.1:p.Ser2021Arg
XM_017019090.1:c.6052A>C	XP_016874579.1:p.Ser2018Arg
NM_015335.5:c.6055A>C MANE Select	NP_056150.1:p.Ser2019Arg