Canonical Allele Identifier: CA386878706

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116413109C>G (hg19) ; chr12:g.115975304C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975304C>G , CM000674.2:g.115975304C>G	GRCh38
NC_000012.11:g.116413109C>G , CM000674.1:g.116413109C>G	GRCh37
NC_000012.10:g.114897492C>G	NCBI36
NG_023366.1:g.306883G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5598G>C MANE Select	ENSP00000281928.3:p.Arg1866Ser
ENST00000548694.2:n.588G>C
ENST00000648379.1:n.3966G>C
ENST00000648737.1:n.5362G>C
ENST00000648825.1:n.3783G>C
ENST00000648916.1:n.3609G>C
ENST00000649607.1:c.3782G>C
ENST00000649775.1:c.2087G>C
ENST00000650226.1:c.5634G>C	ENSP00000496981.1:p.Arg1878Ser
ENST00000281928.7:c.5598G>C	ENSP00000281928.3:p.Arg1866Ser
ENST00000548694.1:n.588G>C
ENST00000552447.1:c.211G>C
NM_015335.4:c.5598G>C	NP_056150.1:p.Arg1866Ser
XM_011538080.1:c.5634G>C	XP_011536382.1:p.Arg1878Ser
XM_011538081.1:c.5631G>C	XP_011536383.1:p.Arg1877Ser
XM_011538082.1:c.5604G>C	XP_011536384.1:p.Arg1868Ser
XM_011538080.2:c.5634G>C	XP_011536382.1:p.Arg1878Ser
XM_011538081.2:c.5631G>C	XP_011536383.1:p.Arg1877Ser
XM_011538082.2:c.5604G>C	XP_011536384.1:p.Arg1868Ser
XM_017019090.1:c.5595G>C	XP_016874579.1:p.Arg1865Ser
NM_015335.5:c.5598G>C MANE Select	NP_056150.1:p.Arg1866Ser