Canonical Allele Identifier: CA6810541

Gene: MED13L

Linked Data

• dbSNP Id: rs773888969
• ExAC: 12:116413110 C / G
• gnomAD v2: 12-116413110-C-G
• gnomAD v4: 12-115975305-C-G
• MyVariant Identifiers: chr12:g.116413110C>G (hg19) ; chr12:g.115975305C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975305C>G , CM000674.2:g.115975305C>G	GRCh38
NC_000012.11:g.116413110C>G , CM000674.1:g.116413110C>G	GRCh37
NC_000012.10:g.114897493C>G	NCBI36
NG_023366.1:g.306882G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5597G>C MANE Select	ENSP00000281928.3:p.Arg1866Thr
ENST00000548694.2:n.587G>C
ENST00000648379.1:n.3965G>C
ENST00000648737.1:n.5361G>C
ENST00000648825.1:n.3782G>C
ENST00000648916.1:n.3608G>C
ENST00000649607.1:c.3781G>C
ENST00000649775.1:c.2086G>C
ENST00000650226.1:c.5633G>C	ENSP00000496981.1:p.Arg1878Thr
ENST00000281928.7:c.5597G>C	ENSP00000281928.3:p.Arg1866Thr
ENST00000548694.1:n.587G>C
ENST00000552447.1:c.210G>C
NM_015335.4:c.5597G>C	NP_056150.1:p.Arg1866Thr
XM_011538080.1:c.5633G>C	XP_011536382.1:p.Arg1878Thr
XM_011538081.1:c.5630G>C	XP_011536383.1:p.Arg1877Thr
XM_011538082.1:c.5603G>C	XP_011536384.1:p.Arg1868Thr
XM_011538080.2:c.5633G>C	XP_011536382.1:p.Arg1878Thr
XM_011538081.2:c.5630G>C	XP_011536383.1:p.Arg1877Thr
XM_011538082.2:c.5603G>C	XP_011536384.1:p.Arg1868Thr
XM_017019090.1:c.5594G>C	XP_016874579.1:p.Arg1865Thr
NM_015335.5:c.5597G>C MANE Select	NP_056150.1:p.Arg1866Thr