Canonical Allele Identifier: CA386876455

Gene: MED13L

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.5947T>G MANE Select	ENSP00000281928.3:p.Ser1983Ala
ENST00000548784.2:n.2161T>G
ENST00000648379.1:n.4315T>G
ENST00000648737.1:n.5711T>G
ENST00000648825.1:n.4132T>G
ENST00000648916.1:n.3958T>G
ENST00000649607.1:c.4131T>G
ENST00000649775.1:c.2436T>G
ENST00000650226.1:c.5983T>G	ENSP00000496981.1:p.Ser1995Ala
ENST00000281928.7:c.5947T>G	ENSP00000281928.3:p.Ser1983Ala
ENST00000548784.1:n.445T>G
ENST00000552447.1:c.560T>G
NM_015335.4:c.5947T>G	NP_056150.1:p.Ser1983Ala
XM_011538080.1:c.5983T>G	XP_011536382.1:p.Ser1995Ala
XM_011538081.1:c.5980T>G	XP_011536383.1:p.Ser1994Ala
XM_011538082.1:c.5953T>G	XP_011536384.1:p.Ser1985Ala
XM_011538080.2:c.5983T>G	XP_011536382.1:p.Ser1995Ala
XM_011538081.2:c.5980T>G	XP_011536383.1:p.Ser1994Ala
XM_011538082.2:c.5953T>G	XP_011536384.1:p.Ser1985Ala
XM_017019090.1:c.5944T>G	XP_016874579.1:p.Ser1982Ala
NM_015335.5:c.5947T>G MANE Select	NP_056150.1:p.Ser1983Ala