Canonical Allele Identifier: CA386881366

Gene: MED13L

Linked Data

• ClinVar Variation Id: 2295045
• ClinVar RCV Id: RCV002865029 ; RCV003319545
• gnomAD v4: 12-115982554-C-T
• MyVariant Identifiers: chr12:g.116420359C>T (hg19) ; chr12:g.115982554C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982554C>T , CM000674.2:g.115982554C>T	GRCh38
NC_000012.11:g.116420359C>T , CM000674.1:g.116420359C>T	GRCh37
NC_000012.10:g.114904742C>T	NCBI36
NG_023366.1:g.299633G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5005G>A MANE Select	ENSP00000281928.3:p.Asp1669Asn
ENST00000549786.2:c.4433G>A
ENST00000648379.1:n.3373G>A
ENST00000648737.1:n.4769G>A
ENST00000648825.1:n.1745G>A
ENST00000648916.1:n.3016G>A
ENST00000649146.1:n.2248G>A
ENST00000649607.1:c.3189G>A
ENST00000649775.1:c.1494G>A
ENST00000650226.1:c.5005G>A	ENSP00000496981.1:p.Asp1669Asn
ENST00000281928.7:c.5005G>A	ENSP00000281928.3:p.Asp1669Asn
ENST00000549786.1:c.369G>A
ENST00000552340.1:c.37G>A	ENSP00000449876.1:p.Asp13Asn
NM_015335.4:c.5005G>A	NP_056150.1:p.Asp1669Asn
XM_011538080.1:c.5005G>A	XP_011536382.1:p.Asp1669Asn
XM_011538081.1:c.5002G>A	XP_011536383.1:p.Asp1668Asn
XM_011538082.1:c.4975G>A	XP_011536384.1:p.Asp1659Asn
XM_011538080.2:c.5005G>A	XP_011536382.1:p.Asp1669Asn
XM_011538081.2:c.5002G>A	XP_011536383.1:p.Asp1668Asn
XM_011538082.2:c.4975G>A	XP_011536384.1:p.Asp1659Asn
XM_017019090.1:c.5002G>A	XP_016874579.1:p.Asp1668Asn
NM_015335.5:c.5005G>A MANE Select	NP_056150.1:p.Asp1669Asn