Canonical Allele Identifier: CA386876469

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408522A>T (hg19) ; chr12:g.115970717A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970717A>T , CM000674.2:g.115970717A>T	GRCh38
NC_000012.11:g.116408522A>T , CM000674.1:g.116408522A>T	GRCh37
NC_000012.10:g.114892905A>T	NCBI36
NG_023366.1:g.311470T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5944T>A MANE Select	ENSP00000281928.3:p.Ser1982Thr
ENST00000548784.2:n.2158T>A
ENST00000648379.1:n.4312T>A
ENST00000648737.1:n.5708T>A
ENST00000648825.1:n.4129T>A
ENST00000648916.1:n.3955T>A
ENST00000649607.1:c.4128T>A
ENST00000649775.1:c.2433T>A
ENST00000650226.1:c.5980T>A	ENSP00000496981.1:p.Ser1994Thr
ENST00000281928.7:c.5944T>A	ENSP00000281928.3:p.Ser1982Thr
ENST00000548784.1:n.442T>A
ENST00000552447.1:c.557T>A
NM_015335.4:c.5944T>A	NP_056150.1:p.Ser1982Thr
XM_011538080.1:c.5980T>A	XP_011536382.1:p.Ser1994Thr
XM_011538081.1:c.5977T>A	XP_011536383.1:p.Ser1993Thr
XM_011538082.1:c.5950T>A	XP_011536384.1:p.Ser1984Thr
XM_011538080.2:c.5980T>A	XP_011536382.1:p.Ser1994Thr
XM_011538081.2:c.5977T>A	XP_011536383.1:p.Ser1993Thr
XM_011538082.2:c.5950T>A	XP_011536384.1:p.Ser1984Thr
XM_017019090.1:c.5941T>A	XP_016874579.1:p.Ser1981Thr
NM_015335.5:c.5944T>A MANE Select	NP_056150.1:p.Ser1982Thr