Canonical Allele Identifier: CA6810547

Gene: MED13L

Linked Data

• dbSNP Id: rs762352631
• ExAC: 12:116413139 G / A
• gnomAD v2: 12-116413139-G-A
• MyVariant Identifiers: chr12:g.116413139G>A (hg19) ; chr12:g.115975334G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975334G>A , CM000674.2:g.115975334G>A	GRCh38
NC_000012.11:g.116413139G>A , CM000674.1:g.116413139G>A	GRCh37
NC_000012.10:g.114897522G>A	NCBI36
NG_023366.1:g.306853C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5589-21C>T MANE Select	ENSP00000281928.3:n.5589-21C>T
ENST00000548694.2:n.558C>T
ENST00000648379.1:n.3957-21C>T
ENST00000648737.1:n.5353-21C>T
ENST00000648825.1:n.3774-21C>T
ENST00000648916.1:n.3600-21C>T
ENST00000649607.1:c.3773-21C>T
ENST00000649775.1:c.2078-21C>T
ENST00000650226.1:c.5604C>T	ENSP00000496981.1:p.Phe1868=
ENST00000281928.7:c.5589-21C>T	ENSP00000281928.3:n.5589-21C>T
ENST00000548694.1:n.558C>T
ENST00000552447.1:c.181C>T
NM_015335.4:c.5589-21C>T	NP_056150.1:n.5589-21C>T
XM_011538080.1:c.5604C>T	XP_011536382.1:p.Phe1868=
XM_011538081.1:c.5601C>T	XP_011536383.1:p.Phe1867=
XM_011538082.1:c.5574C>T	XP_011536384.1:p.Phe1858=
XM_011538080.2:c.5604C>T	XP_011536382.1:p.Phe1868=
XM_011538081.2:c.5601C>T	XP_011536383.1:p.Phe1867=
XM_011538082.2:c.5574C>T	XP_011536384.1:p.Phe1858=
XM_017019090.1:c.5586-21C>T	XP_016874579.1:n.5586-21C>T
NM_015335.5:c.5589-21C>T MANE Select	NP_056150.1:n.5589-21C>T