Canonical Allele Identifier: CA386878648

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116413099A>T (hg19) ; chr12:g.115975294A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975294A>T , CM000674.2:g.115975294A>T	GRCh38
NC_000012.11:g.116413099A>T , CM000674.1:g.116413099A>T	GRCh37
NC_000012.10:g.114897482A>T	NCBI36
NG_023366.1:g.306893T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.5608T>A MANE Select	ENSP00000281928.3:p.Ser1870Thr
ENST00000548694.2:n.598T>A
ENST00000648379.1:n.3976T>A
ENST00000648737.1:n.5372T>A
ENST00000648825.1:n.3793T>A
ENST00000648916.1:n.3619T>A
ENST00000649607.1:c.3792T>A
ENST00000649775.1:c.2097T>A
ENST00000650226.1:c.5644T>A	ENSP00000496981.1:p.Ser1882Thr
ENST00000281928.7:c.5608T>A	ENSP00000281928.3:p.Ser1870Thr
ENST00000548694.1:n.598T>A
ENST00000552447.1:c.221T>A
NM_015335.4:c.5608T>A	NP_056150.1:p.Ser1870Thr
XM_011538080.1:c.5644T>A	XP_011536382.1:p.Ser1882Thr
XM_011538081.1:c.5641T>A	XP_011536383.1:p.Ser1881Thr
XM_011538082.1:c.5614T>A	XP_011536384.1:p.Ser1872Thr
XM_011538080.2:c.5644T>A	XP_011536382.1:p.Ser1882Thr
XM_011538081.2:c.5641T>A	XP_011536383.1:p.Ser1881Thr
XM_011538082.2:c.5614T>A	XP_011536384.1:p.Ser1872Thr
XM_017019090.1:c.5605T>A	XP_016874579.1:p.Ser1869Thr
NM_015335.5:c.5608T>A MANE Select	NP_056150.1:p.Ser1870Thr