Canonical Allele Identifier: CA386876097

Gene: MED13L

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.6055A>G MANE Select	ENSP00000281928.3:p.Ser2019Gly
ENST00000548784.2:n.2269A>G
ENST00000648379.1:n.4423A>G
ENST00000648737.1:n.5819A>G
ENST00000648825.1:n.4240A>G
ENST00000648916.1:n.4066A>G
ENST00000649607.1:c.4239A>G
ENST00000649775.1:c.2544A>G
ENST00000650226.1:c.6091A>G	ENSP00000496981.1:p.Ser2031Gly
ENST00000281928.7:c.6055A>G	ENSP00000281928.3:p.Ser2019Gly
NM_015335.4:c.6055A>G	NP_056150.1:p.Ser2019Gly
XM_011538080.1:c.6091A>G	XP_011536382.1:p.Ser2031Gly
XM_011538081.1:c.6088A>G	XP_011536383.1:p.Ser2030Gly
XM_011538082.1:c.6061A>G	XP_011536384.1:p.Ser2021Gly
XM_011538080.2:c.6091A>G	XP_011536382.1:p.Ser2031Gly
XM_011538081.2:c.6088A>G	XP_011536383.1:p.Ser2030Gly
XM_011538082.2:c.6061A>G	XP_011536384.1:p.Ser2021Gly
XM_017019090.1:c.6052A>G	XP_016874579.1:p.Ser2018Gly
NM_015335.5:c.6055A>G MANE Select	NP_056150.1:p.Ser2019Gly