Canonical Allele Identifier: CA386878136

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116412994C>G (hg19) ; chr12:g.115975189C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975189C>G , CM000674.2:g.115975189C>G	GRCh38
NC_000012.11:g.116412994C>G , CM000674.1:g.116412994C>G	GRCh37
NC_000012.10:g.114897377C>G	NCBI36
NG_023366.1:g.306998G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.5713G>C MANE Select	ENSP00000281928.3:p.Gly1905Arg
ENST00000548694.2:n.703G>C
ENST00000648379.1:n.4081G>C
ENST00000648737.1:n.5477G>C
ENST00000648825.1:n.3898G>C
ENST00000648916.1:n.3724G>C
ENST00000649607.1:c.3897G>C
ENST00000649775.1:c.2202G>C
ENST00000650226.1:c.5749G>C	ENSP00000496981.1:p.Gly1917Arg
ENST00000281928.7:c.5713G>C	ENSP00000281928.3:p.Gly1905Arg
ENST00000548694.1:n.703G>C
ENST00000552447.1:c.326G>C
NM_015335.4:c.5713G>C	NP_056150.1:p.Gly1905Arg
XM_011538080.1:c.5749G>C	XP_011536382.1:p.Gly1917Arg
XM_011538081.1:c.5746G>C	XP_011536383.1:p.Gly1916Arg
XM_011538082.1:c.5719G>C	XP_011536384.1:p.Gly1907Arg
XM_011538080.2:c.5749G>C	XP_011536382.1:p.Gly1917Arg
XM_011538081.2:c.5746G>C	XP_011536383.1:p.Gly1916Arg
XM_011538082.2:c.5719G>C	XP_011536384.1:p.Gly1907Arg
XM_017019090.1:c.5710G>C	XP_016874579.1:p.Gly1904Arg
NM_015335.5:c.5713G>C MANE Select	NP_056150.1:p.Gly1905Arg