Canonical Allele Identifier: CA244141190

Gene: MED13L

Linked Data

• dbSNP Id: rs370324246
• MyVariant Identifiers: chr12:g.116420249G>C (hg19) ; chr12:g.115982444G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982444G>C , CM000674.2:g.115982444G>C	GRCh38
NC_000012.11:g.116420249G>C , CM000674.1:g.116420249G>C	GRCh37
NC_000012.10:g.114904632G>C	NCBI36
NG_023366.1:g.299743C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5115C>G MANE Select	ENSP00000281928.3:p.Arg1705=
ENST00000549786.2:c.4543C>G
ENST00000648379.1:n.3483C>G
ENST00000648737.1:n.4879C>G
ENST00000648825.1:n.1855C>G
ENST00000648916.1:n.3126C>G
ENST00000649146.1:n.2358C>G
ENST00000649607.1:c.3299C>G
ENST00000649775.1:c.1604C>G
ENST00000650226.1:c.5115C>G	ENSP00000496981.1:p.Arg1705=
ENST00000281928.7:c.5115C>G	ENSP00000281928.3:p.Arg1705=
ENST00000549786.1:c.479C>G
ENST00000552340.1:c.147C>G	ENSP00000449876.1:p.Arg49=
NM_015335.4:c.5115C>G	NP_056150.1:p.Arg1705=
XM_011538080.1:c.5115C>G	XP_011536382.1:p.Arg1705=
XM_011538081.1:c.5112C>G	XP_011536383.1:p.Arg1704=
XM_011538082.1:c.5085C>G	XP_011536384.1:p.Arg1695=
XM_011538080.2:c.5115C>G	XP_011536382.1:p.Arg1705=
XM_011538081.2:c.5112C>G	XP_011536383.1:p.Arg1704=
XM_011538082.2:c.5085C>G	XP_011536384.1:p.Arg1695=
XM_017019090.1:c.5112C>G	XP_016874579.1:p.Arg1704=
NM_015335.5:c.5115C>G MANE Select	NP_056150.1:p.Arg1705=