Canonical Allele Identifier: CA386872533

Gene: MED13L

Linked Data

• gnomAD v4: 12-116022588-A-G
• MyVariant Identifiers: chr12:g.116460393A>G (hg19) ; chr12:g.116022588A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116022588A>G , CM000674.2:g.116022588A>G	GRCh38
NC_000012.11:g.116460393A>G , CM000674.1:g.116460393A>G	GRCh37
NC_000012.10:g.114944776A>G	NCBI36
NG_023366.1:g.259599T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.493T>C MANE Select	ENSP00000281928.3:p.Cys165Arg
ENST00000548743.2:c.463T>C	ENSP00000448553.2:p.Cys155Arg
ENST00000647567.1:c.403T>C	ENSP00000497136.1:p.Cys135Arg
ENST00000648737.1:n.257T>C
ENST00000650226.1:c.493T>C	ENSP00000496981.1:p.Cys165Arg
ENST00000281928.7:c.493T>C	ENSP00000281928.3:p.Cys165Arg
NM_015335.4:c.493T>C	NP_056150.1:p.Cys165Arg
XM_011538080.1:c.493T>C	XP_011536382.1:p.Cys165Arg
XM_011538081.1:c.493T>C	XP_011536383.1:p.Cys165Arg
XM_011538082.1:c.463T>C	XP_011536384.1:p.Cys155Arg
XM_011538080.2:c.493T>C	XP_011536382.1:p.Cys165Arg
XM_011538081.2:c.493T>C	XP_011536383.1:p.Cys165Arg
XM_011538082.2:c.463T>C	XP_011536384.1:p.Cys155Arg
XM_017019090.1:c.493T>C	XP_016874579.1:p.Cys165Arg
NM_015335.5:c.493T>C MANE Select	NP_056150.1:p.Cys165Arg