Canonical Allele Identifier: CA386876095

Gene: MED13L

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.6055A>T MANE Select	ENSP00000281928.3:p.Ser2019Cys
ENST00000548784.2:n.2269A>T
ENST00000648379.1:n.4423A>T
ENST00000648737.1:n.5819A>T
ENST00000648825.1:n.4240A>T
ENST00000648916.1:n.4066A>T
ENST00000649607.1:c.4239A>T
ENST00000649775.1:c.2544A>T
ENST00000650226.1:c.6091A>T	ENSP00000496981.1:p.Ser2031Cys
ENST00000281928.7:c.6055A>T	ENSP00000281928.3:p.Ser2019Cys
NM_015335.4:c.6055A>T	NP_056150.1:p.Ser2019Cys
XM_011538080.1:c.6091A>T	XP_011536382.1:p.Ser2031Cys
XM_011538081.1:c.6088A>T	XP_011536383.1:p.Ser2030Cys
XM_011538082.1:c.6061A>T	XP_011536384.1:p.Ser2021Cys
XM_011538080.2:c.6091A>T	XP_011536382.1:p.Ser2031Cys
XM_011538081.2:c.6088A>T	XP_011536383.1:p.Ser2030Cys
XM_011538082.2:c.6061A>T	XP_011536384.1:p.Ser2021Cys
XM_017019090.1:c.6052A>T	XP_016874579.1:p.Ser2018Cys
NM_015335.5:c.6055A>T MANE Select	NP_056150.1:p.Ser2019Cys