Canonical Allele Identifier: CA386878699

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116413108T>C (hg19) ; chr12:g.115975303T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975303T>C , CM000674.2:g.115975303T>C	GRCh38
NC_000012.11:g.116413108T>C , CM000674.1:g.116413108T>C	GRCh37
NC_000012.10:g.114897491T>C	NCBI36
NG_023366.1:g.306884A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5599A>G MANE Select	ENSP00000281928.3:p.Ser1867Gly
ENST00000548694.2:n.589A>G
ENST00000648379.1:n.3967A>G
ENST00000648737.1:n.5363A>G
ENST00000648825.1:n.3784A>G
ENST00000648916.1:n.3610A>G
ENST00000649607.1:c.3783A>G
ENST00000649775.1:c.2088A>G
ENST00000650226.1:c.5635A>G	ENSP00000496981.1:p.Ser1879Gly
ENST00000281928.7:c.5599A>G	ENSP00000281928.3:p.Ser1867Gly
ENST00000548694.1:n.589A>G
ENST00000552447.1:c.212A>G
NM_015335.4:c.5599A>G	NP_056150.1:p.Ser1867Gly
XM_011538080.1:c.5635A>G	XP_011536382.1:p.Ser1879Gly
XM_011538081.1:c.5632A>G	XP_011536383.1:p.Ser1878Gly
XM_011538082.1:c.5605A>G	XP_011536384.1:p.Ser1869Gly
XM_011538080.2:c.5635A>G	XP_011536382.1:p.Ser1879Gly
XM_011538081.2:c.5632A>G	XP_011536383.1:p.Ser1878Gly
XM_011538082.2:c.5605A>G	XP_011536384.1:p.Ser1869Gly
XM_017019090.1:c.5596A>G	XP_016874579.1:p.Ser1866Gly
NM_015335.5:c.5599A>G MANE Select	NP_056150.1:p.Ser1867Gly