Canonical Allele Identifier: CA6810691

Gene: MED13L

Linked Data

• ClinVar Variation Id: 738005
• ClinVar RCV Id: RCV000913847 ; RCV001391793
• dbSNP Id: rs771118133
• ExAC: 12:116420413 A / T
• gnomAD v2: 12-116420413-A-T
• gnomAD v4: 12-115982608-A-T
• MyVariant Identifiers: chr12:g.116420413A>T (hg19) ; chr12:g.115982608A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982608A>T , CM000674.2:g.115982608A>T	GRCh38
NC_000012.11:g.116420413A>T , CM000674.1:g.116420413A>T	GRCh37
NC_000012.10:g.114904796A>T	NCBI36
NG_023366.1:g.299579T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.4956-5T>A MANE Select	ENSP00000281928.3:n.4956-5T>A
ENST00000549786.2:c.4384-5T>A
ENST00000648379.1:n.3324-5T>A
ENST00000648737.1:n.4720-5T>A
ENST00000648825.1:n.1696-5T>A
ENST00000648916.1:n.2967-5T>A
ENST00000649146.1:n.2194T>A
ENST00000649607.1:c.3140-5T>A
ENST00000649775.1:c.1453-13T>A
ENST00000650226.1:c.4956-5T>A	ENSP00000496981.1:n.4956-5T>A
ENST00000281928.7:c.4956-5T>A	ENSP00000281928.3:n.4956-5T>A
ENST00000549786.1:c.320-5T>A
NM_015335.4:c.4956-5T>A	NP_056150.1:n.4956-5T>A
XM_011538080.1:c.4956-5T>A	XP_011536382.1:n.4956-5T>A
XM_011538081.1:c.4953-5T>A	XP_011536383.1:n.4953-5T>A
XM_011538082.1:c.4926-5T>A	XP_011536384.1:n.4926-5T>A
XM_011538080.2:c.4956-5T>A	XP_011536382.1:n.4956-5T>A
XM_011538081.2:c.4953-5T>A	XP_011536383.1:n.4953-5T>A
XM_011538082.2:c.4926-5T>A	XP_011536384.1:n.4926-5T>A
XM_017019090.1:c.4953-5T>A	XP_016874579.1:n.4953-5T>A
NM_015335.5:c.4956-5T>A MANE Select	NP_056150.1:n.4956-5T>A