Canonical Allele Identifier: CA386876462

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408521G>C (hg19) ; chr12:g.115970716G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970716G>C , CM000674.2:g.115970716G>C	GRCh38
NC_000012.11:g.116408521G>C , CM000674.1:g.116408521G>C	GRCh37
NC_000012.10:g.114892904G>C	NCBI36
NG_023366.1:g.311471C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5945C>G MANE Select	ENSP00000281928.3:p.Ser1982Ter
ENST00000548784.2:n.2159C>G
ENST00000648379.1:n.4313C>G
ENST00000648737.1:n.5709C>G
ENST00000648825.1:n.4130C>G
ENST00000648916.1:n.3956C>G
ENST00000649607.1:c.4129C>G
ENST00000649775.1:c.2434C>G
ENST00000650226.1:c.5981C>G	ENSP00000496981.1:p.Ser1994Ter
ENST00000281928.7:c.5945C>G	ENSP00000281928.3:p.Ser1982Ter
ENST00000548784.1:n.443C>G
ENST00000552447.1:c.558C>G
NM_015335.4:c.5945C>G	NP_056150.1:p.Ser1982Ter
XM_011538080.1:c.5981C>G	XP_011536382.1:p.Ser1994Ter
XM_011538081.1:c.5978C>G	XP_011536383.1:p.Ser1993Ter
XM_011538082.1:c.5951C>G	XP_011536384.1:p.Ser1984Ter
XM_011538080.2:c.5981C>G	XP_011536382.1:p.Ser1994Ter
XM_011538081.2:c.5978C>G	XP_011536383.1:p.Ser1993Ter
XM_011538082.2:c.5951C>G	XP_011536384.1:p.Ser1984Ter
XM_017019090.1:c.5942C>G	XP_016874579.1:p.Ser1981Ter
NM_015335.5:c.5945C>G MANE Select	NP_056150.1:p.Ser1982Ter