Canonical Allele Identifier: CA386876457

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408519A>G (hg19) ; chr12:g.115970714A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970714A>G , CM000674.2:g.115970714A>G	GRCh38
NC_000012.11:g.116408519A>G , CM000674.1:g.116408519A>G	GRCh37
NC_000012.10:g.114892902A>G	NCBI36
NG_023366.1:g.311473T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.5947T>C MANE Select	ENSP00000281928.3:p.Ser1983Pro
ENST00000548784.2:n.2161T>C
ENST00000648379.1:n.4315T>C
ENST00000648737.1:n.5711T>C
ENST00000648825.1:n.4132T>C
ENST00000648916.1:n.3958T>C
ENST00000649607.1:c.4131T>C
ENST00000649775.1:c.2436T>C
ENST00000650226.1:c.5983T>C	ENSP00000496981.1:p.Ser1995Pro
ENST00000281928.7:c.5947T>C	ENSP00000281928.3:p.Ser1983Pro
ENST00000548784.1:n.445T>C
ENST00000552447.1:c.560T>C
NM_015335.4:c.5947T>C	NP_056150.1:p.Ser1983Pro
XM_011538080.1:c.5983T>C	XP_011536382.1:p.Ser1995Pro
XM_011538081.1:c.5980T>C	XP_011536383.1:p.Ser1994Pro
XM_011538082.1:c.5953T>C	XP_011536384.1:p.Ser1985Pro
XM_011538080.2:c.5983T>C	XP_011536382.1:p.Ser1995Pro
XM_011538081.2:c.5980T>C	XP_011536383.1:p.Ser1994Pro
XM_011538082.2:c.5953T>C	XP_011536384.1:p.Ser1985Pro
XM_017019090.1:c.5944T>C	XP_016874579.1:p.Ser1982Pro
NM_015335.5:c.5947T>C MANE Select	NP_056150.1:p.Ser1983Pro