Canonical Allele Identifier: CA386876673

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408567T>G (hg19) ; chr12:g.115970762T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970762T>G , CM000674.2:g.115970762T>G	GRCh38
NC_000012.11:g.116408567T>G , CM000674.1:g.116408567T>G	GRCh37
NC_000012.10:g.114892950T>G	NCBI36
NG_023366.1:g.311425A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5899A>C MANE Select	ENSP00000281928.3:p.Thr1967Pro
ENST00000548694.2:n.889A>C
ENST00000548784.2:n.2113A>C
ENST00000648379.1:n.4267A>C
ENST00000648737.1:n.5663A>C
ENST00000648825.1:n.4084A>C
ENST00000648916.1:n.3910A>C
ENST00000649607.1:c.4083A>C
ENST00000649775.1:c.2388A>C
ENST00000650226.1:c.5935A>C	ENSP00000496981.1:p.Thr1979Pro
ENST00000281928.7:c.5899A>C	ENSP00000281928.3:p.Thr1967Pro
ENST00000548784.1:n.397A>C
ENST00000552447.1:c.512A>C
NM_015335.4:c.5899A>C	NP_056150.1:p.Thr1967Pro
XM_011538080.1:c.5935A>C	XP_011536382.1:p.Thr1979Pro
XM_011538081.1:c.5932A>C	XP_011536383.1:p.Thr1978Pro
XM_011538082.1:c.5905A>C	XP_011536384.1:p.Thr1969Pro
XM_011538080.2:c.5935A>C	XP_011536382.1:p.Thr1979Pro
XM_011538081.2:c.5932A>C	XP_011536383.1:p.Thr1978Pro
XM_011538082.2:c.5905A>C	XP_011536384.1:p.Thr1969Pro
XM_017019090.1:c.5896A>C	XP_016874579.1:p.Thr1966Pro
NM_015335.5:c.5899A>C MANE Select	NP_056150.1:p.Thr1967Pro