Canonical Allele Identifier: CA386872529

Gene: MED13L

Linked Data

• ClinVar Variation Id: 2145137
• ClinVar RCV Id: RCV003064876
• MyVariant Identifiers: chr12:g.116460392C>T (hg19) ; chr12:g.116022587C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116022587C>T , CM000674.2:g.116022587C>T	GRCh38
NC_000012.11:g.116460392C>T , CM000674.1:g.116460392C>T	GRCh37
NC_000012.10:g.114944775C>T	NCBI36
NG_023366.1:g.259600G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.494G>A MANE Select	ENSP00000281928.3:p.Cys165Tyr
ENST00000548743.2:c.464G>A	ENSP00000448553.2:p.Cys155Tyr
ENST00000647567.1:c.404G>A	ENSP00000497136.1:p.Cys135Tyr
ENST00000648737.1:n.258G>A
ENST00000650226.1:c.494G>A	ENSP00000496981.1:p.Cys165Tyr
ENST00000281928.7:c.494G>A	ENSP00000281928.3:p.Cys165Tyr
NM_015335.4:c.494G>A	NP_056150.1:p.Cys165Tyr
XM_011538080.1:c.494G>A	XP_011536382.1:p.Cys165Tyr
XM_011538081.1:c.494G>A	XP_011536383.1:p.Cys165Tyr
XM_011538082.1:c.464G>A	XP_011536384.1:p.Cys155Tyr
XM_011538080.2:c.494G>A	XP_011536382.1:p.Cys165Tyr
XM_011538081.2:c.494G>A	XP_011536383.1:p.Cys165Tyr
XM_011538082.2:c.464G>A	XP_011536384.1:p.Cys155Tyr
XM_017019090.1:c.494G>A	XP_016874579.1:p.Cys165Tyr
NM_015335.5:c.494G>A MANE Select	NP_056150.1:p.Cys165Tyr