Canonical Allele Identifier: CA6811122

Gene: MED13L

Linked Data

• dbSNP Id: rs747479780
• ExAC: 12:116435017 C / T
• gnomAD v2: 12-116435017-C-T
• gnomAD v3: 12-115997212-C-T
• gnomAD v4: 12-115997212-C-T
• COSMIC: COSM5840250
• MyVariant Identifiers: chr12:g.116435017C>T (hg19) ; chr12:g.115997212C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997212C>T , CM000674.2:g.115997212C>T	GRCh38
NC_000012.11:g.116435017C>T , CM000674.1:g.116435017C>T	GRCh37
NC_000012.10:g.114919400C>T	NCBI36
NG_023366.1:g.284975G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2588G>A MANE Select	ENSP00000281928.3:p.Arg863Lys
ENST00000548743.2:c.2558G>A	ENSP00000448553.2:p.Arg853Lys
ENST00000549786.2:c.2016G>A
ENST00000647927.1:n.2961G>A
ENST00000648173.1:n.1383G>A
ENST00000648379.1:n.956G>A
ENST00000648737.1:n.2352G>A
ENST00000648916.1:n.599G>A
ENST00000649607.1:c.772G>A
ENST00000650226.1:c.2588G>A	ENSP00000496981.1:p.Arg863Lys
ENST00000281928.7:c.2588G>A	ENSP00000281928.3:p.Arg863Lys
NM_015335.4:c.2588G>A	NP_056150.1:p.Arg863Lys
XM_011538080.1:c.2588G>A	XP_011536382.1:p.Arg863Lys
XM_011538081.1:c.2585G>A	XP_011536383.1:p.Arg862Lys
XM_011538082.1:c.2558G>A	XP_011536384.1:p.Arg853Lys
XM_011538080.2:c.2588G>A	XP_011536382.1:p.Arg863Lys
XM_011538081.2:c.2585G>A	XP_011536383.1:p.Arg862Lys
XM_011538082.2:c.2558G>A	XP_011536384.1:p.Arg853Lys
XM_017019090.1:c.2585G>A	XP_016874579.1:p.Arg862Lys
NM_015335.5:c.2588G>A MANE Select	NP_056150.1:p.Arg863Lys