Canonical Allele Identifier: CA386883764

Gene: MED13L

Linked Data

• dbSNP Id: rs1877539033
• gnomAD v3: 12-115984330-G-A
• gnomAD v4: 12-115984330-G-A
• MyVariant Identifiers: chr12:g.116422135G>A (hg19) ; chr12:g.115984330G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984330G>A , CM000674.2:g.115984330G>A	GRCh38
NC_000012.11:g.116422135G>A , CM000674.1:g.116422135G>A	GRCh37
NC_000012.10:g.114906518G>A	NCBI36
NG_023366.1:g.297857C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4381C>T MANE Select	ENSP00000281928.3:p.Arg1461Cys
ENST00000549786.2:c.3809C>T
ENST00000648379.1:n.2749C>T
ENST00000648737.1:n.4145C>T
ENST00000648825.1:n.1121C>T
ENST00000648916.1:n.2392C>T
ENST00000649146.1:n.1111C>T
ENST00000649607.1:c.2565C>T
ENST00000649775.1:c.878C>T
ENST00000650091.1:n.2357C>T
ENST00000650226.1:c.4381C>T	ENSP00000496981.1:p.Arg1461Cys
ENST00000281928.7:c.4381C>T	ENSP00000281928.3:p.Arg1461Cys
NM_015335.4:c.4381C>T	NP_056150.1:p.Arg1461Cys
XM_011538080.1:c.4381C>T	XP_011536382.1:p.Arg1461Cys
XM_011538081.1:c.4378C>T	XP_011536383.1:p.Arg1460Cys
XM_011538082.1:c.4351C>T	XP_011536384.1:p.Arg1451Cys
XM_011538080.2:c.4381C>T	XP_011536382.1:p.Arg1461Cys
XM_011538081.2:c.4378C>T	XP_011536383.1:p.Arg1460Cys
XM_011538082.2:c.4351C>T	XP_011536384.1:p.Arg1451Cys
XM_017019090.1:c.4378C>T	XP_016874579.1:p.Arg1460Cys
NM_015335.5:c.4381C>T MANE Select	NP_056150.1:p.Arg1461Cys