Canonical Allele Identifier: CA386878701

Gene: MED13L

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5599A>T MANE Select	ENSP00000281928.3:p.Ser1867Cys
ENST00000548694.2:n.589A>T
ENST00000648379.1:n.3967A>T
ENST00000648737.1:n.5363A>T
ENST00000648825.1:n.3784A>T
ENST00000648916.1:n.3610A>T
ENST00000649607.1:c.3783A>T
ENST00000649775.1:c.2088A>T
ENST00000650226.1:c.5635A>T	ENSP00000496981.1:p.Ser1879Cys
ENST00000281928.7:c.5599A>T	ENSP00000281928.3:p.Ser1867Cys
ENST00000548694.1:n.589A>T
ENST00000552447.1:c.212A>T
NM_015335.4:c.5599A>T	NP_056150.1:p.Ser1867Cys
XM_011538080.1:c.5635A>T	XP_011536382.1:p.Ser1879Cys
XM_011538081.1:c.5632A>T	XP_011536383.1:p.Ser1878Cys
XM_011538082.1:c.5605A>T	XP_011536384.1:p.Ser1869Cys
XM_011538080.2:c.5635A>T	XP_011536382.1:p.Ser1879Cys
XM_011538081.2:c.5632A>T	XP_011536383.1:p.Ser1878Cys
XM_011538082.2:c.5605A>T	XP_011536384.1:p.Ser1869Cys
XM_017019090.1:c.5596A>T	XP_016874579.1:p.Ser1866Cys
NM_015335.5:c.5599A>T MANE Select	NP_056150.1:p.Ser1867Cys