Canonical Allele Identifier: CA386872161

Gene: MED13L

Linked Data

• ClinVar Variation Id: 2643371
• ClinVar RCV Id: RCV003390311 ; RCV004364507
• gnomAD v4: 12-116022480-G-C
• MyVariant Identifiers: chr12:g.116460285G>C (hg19) ; chr12:g.116022480G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116022480G>C , CM000674.2:g.116022480G>C	GRCh38
NC_000012.11:g.116460285G>C , CM000674.1:g.116460285G>C	GRCh37
NC_000012.10:g.114944668G>C	NCBI36
NG_023366.1:g.259707C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.601C>G MANE Select	ENSP00000281928.3:p.Gln201Glu
ENST00000548743.2:c.571C>G	ENSP00000448553.2:p.Gln191Glu
ENST00000549786.2:c.29C>G
ENST00000647567.1:c.511C>G	ENSP00000497136.1:p.Gln171Glu
ENST00000648737.1:n.365C>G
ENST00000650226.1:c.601C>G	ENSP00000496981.1:p.Gln201Glu
ENST00000281928.7:c.601C>G	ENSP00000281928.3:p.Gln201Glu
NM_015335.4:c.601C>G	NP_056150.1:p.Gln201Glu
XM_011538080.1:c.601C>G	XP_011536382.1:p.Gln201Glu
XM_011538081.1:c.601C>G	XP_011536383.1:p.Gln201Glu
XM_011538082.1:c.571C>G	XP_011536384.1:p.Gln191Glu
XM_011538080.2:c.601C>G	XP_011536382.1:p.Gln201Glu
XM_011538081.2:c.601C>G	XP_011536383.1:p.Gln201Glu
XM_011538082.2:c.571C>G	XP_011536384.1:p.Gln191Glu
XM_017019090.1:c.601C>G	XP_016874579.1:p.Gln201Glu
NM_015335.5:c.601C>G MANE Select	NP_056150.1:p.Gln201Glu