Canonical Allele Identifier: CA386878827

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116413320C>A (hg19) ; chr12:g.115975515C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975515C>A , CM000674.2:g.115975515C>A	GRCh38
NC_000012.11:g.116413320C>A , CM000674.1:g.116413320C>A	GRCh37
NC_000012.10:g.114897703C>A	NCBI36
NG_023366.1:g.306672G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5588G>T MANE Select	ENSP00000281928.3:p.Arg1863Met
ENST00000548694.2:n.377G>T
ENST00000648379.1:n.3956G>T
ENST00000648737.1:n.5352G>T
ENST00000648825.1:n.3773G>T
ENST00000648916.1:n.3599G>T
ENST00000649607.1:c.3772G>T
ENST00000649775.1:c.2077G>T
ENST00000650226.1:c.5588G>T	ENSP00000496981.1:p.Arg1863Met
ENST00000281928.7:c.5588G>T	ENSP00000281928.3:p.Arg1863Met
ENST00000548694.1:n.377G>T
ENST00000552447.1:c.165G>T
NM_015335.4:c.5588G>T	NP_056150.1:p.Arg1863Met
XM_011538080.1:c.5588G>T	XP_011536382.1:p.Arg1863Met
XM_011538081.1:c.5585G>T	XP_011536383.1:p.Arg1862Met
XM_011538082.1:c.5558G>T	XP_011536384.1:p.Arg1853Met
XM_011538080.2:c.5588G>T	XP_011536382.1:p.Arg1863Met
XM_011538081.2:c.5585G>T	XP_011536383.1:p.Arg1862Met
XM_011538082.2:c.5558G>T	XP_011536384.1:p.Arg1853Met
XM_017019090.1:c.5585G>T	XP_016874579.1:p.Arg1862Met
NM_015335.5:c.5588G>T MANE Select	NP_056150.1:p.Arg1863Met