Canonical Allele Identifier: CA386876450

Gene: MED13L

Linked Data

• dbSNP Id: rs1876522632
• gnomAD v3: 12-115970713-G-C
• gnomAD v4: 12-115970713-G-C
• MyVariant Identifiers: chr12:g.116408518G>C (hg19) ; chr12:g.115970713G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970713G>C , CM000674.2:g.115970713G>C	GRCh38
NC_000012.11:g.116408518G>C , CM000674.1:g.116408518G>C	GRCh37
NC_000012.10:g.114892901G>C	NCBI36
NG_023366.1:g.311474C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.5948C>G MANE Select	ENSP00000281928.3:p.Ser1983Cys
ENST00000548784.2:n.2162C>G
ENST00000648379.1:n.4316C>G
ENST00000648737.1:n.5712C>G
ENST00000648825.1:n.4133C>G
ENST00000648916.1:n.3959C>G
ENST00000649607.1:c.4132C>G
ENST00000649775.1:c.2437C>G
ENST00000650226.1:c.5984C>G	ENSP00000496981.1:p.Ser1995Cys
ENST00000281928.7:c.5948C>G	ENSP00000281928.3:p.Ser1983Cys
ENST00000548784.1:n.446C>G
ENST00000552447.1:c.561C>G
NM_015335.4:c.5948C>G	NP_056150.1:p.Ser1983Cys
XM_011538080.1:c.5984C>G	XP_011536382.1:p.Ser1995Cys
XM_011538081.1:c.5981C>G	XP_011536383.1:p.Ser1994Cys
XM_011538082.1:c.5954C>G	XP_011536384.1:p.Ser1985Cys
XM_011538080.2:c.5984C>G	XP_011536382.1:p.Ser1995Cys
XM_011538081.2:c.5981C>G	XP_011536383.1:p.Ser1994Cys
XM_011538082.2:c.5954C>G	XP_011536384.1:p.Ser1985Cys
XM_017019090.1:c.5945C>G	XP_016874579.1:p.Ser1982Cys
NM_015335.5:c.5948C>G MANE Select	NP_056150.1:p.Ser1983Cys