Canonical Allele Identifier: CA386927580

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116675443A>G (hg19) ; chr12:g.116237638A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116237638A>G , CM000674.2:g.116237638A>G	GRCh38
NC_000012.11:g.116675443A>G , CM000674.1:g.116675443A>G	GRCh37
NC_000012.10:g.115159826A>G	NCBI36
NG_023366.1:g.44549T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.140T>C MANE Select	ENSP00000281928.3:p.Ile47Thr
ENST00000548743.2:c.110T>C	ENSP00000448553.2:p.Ile37Thr
ENST00000551197.2:c.90T>C
ENST00000647567.1:c.50T>C	ENSP00000497136.1:p.Ile17Thr
ENST00000650226.1:c.140T>C	ENSP00000496981.1:p.Ile47Thr
ENST00000650375.1:n.302T>C
ENST00000281928.7:c.140T>C	ENSP00000281928.3:p.Ile47Thr
ENST00000548743.1:c.110T>C	ENSP00000448553.1:p.Ile37Thr
ENST00000551197.1:n.90T>C
NM_015335.4:c.140T>C	NP_056150.1:p.Ile47Thr
XM_011538080.1:c.140T>C	XP_011536382.1:p.Ile47Thr
XM_011538081.1:c.140T>C	XP_011536383.1:p.Ile47Thr
XM_011538082.1:c.110T>C	XP_011536384.1:p.Ile37Thr
XM_011538080.2:c.140T>C	XP_011536382.1:p.Ile47Thr
XM_011538081.2:c.140T>C	XP_011536383.1:p.Ile47Thr
XM_011538082.2:c.110T>C	XP_011536384.1:p.Ile37Thr
XM_017019090.1:c.140T>C	XP_016874579.1:p.Ile47Thr
NM_015335.5:c.140T>C MANE Select	NP_056150.1:p.Ile47Thr