Canonical Allele Identifier: CA386890891

Gene: MED13L

Linked Data

• gnomAD v4: 12-115997213-T-C
• MyVariant Identifiers: chr12:g.116435018T>C (hg19) ; chr12:g.115997213T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997213T>C , CM000674.2:g.115997213T>C	GRCh38
NC_000012.11:g.116435018T>C , CM000674.1:g.116435018T>C	GRCh37
NC_000012.10:g.114919401T>C	NCBI36
NG_023366.1:g.284974A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2587A>G MANE Select	ENSP00000281928.3:p.Arg863Gly
ENST00000548743.2:c.2557A>G	ENSP00000448553.2:p.Arg853Gly
ENST00000549786.2:c.2015A>G
ENST00000647927.1:n.2960A>G
ENST00000648173.1:n.1382A>G
ENST00000648379.1:n.955A>G
ENST00000648737.1:n.2351A>G
ENST00000648916.1:n.598A>G
ENST00000649607.1:c.771A>G
ENST00000650226.1:c.2587A>G	ENSP00000496981.1:p.Arg863Gly
ENST00000281928.7:c.2587A>G	ENSP00000281928.3:p.Arg863Gly
NM_015335.4:c.2587A>G	NP_056150.1:p.Arg863Gly
XM_011538080.1:c.2587A>G	XP_011536382.1:p.Arg863Gly
XM_011538081.1:c.2584A>G	XP_011536383.1:p.Arg862Gly
XM_011538082.1:c.2557A>G	XP_011536384.1:p.Arg853Gly
XM_011538080.2:c.2587A>G	XP_011536382.1:p.Arg863Gly
XM_011538081.2:c.2584A>G	XP_011536383.1:p.Arg862Gly
XM_011538082.2:c.2557A>G	XP_011536384.1:p.Arg853Gly
XM_017019090.1:c.2584A>G	XP_016874579.1:p.Arg862Gly
NM_015335.5:c.2587A>G MANE Select	NP_056150.1:p.Arg863Gly