Canonical Allele Identifier: CA6810458

Gene: MED13L

Linked Data

• ClinVar Variation Id: 2069225
• ClinVar RCV Id: RCV002961998
• dbSNP Id: rs759519110
• ExAC: 12:116408392 T / A
• gnomAD v2: 12-116408392-T-A
• gnomAD v4: 12-115970587-T-A
• MyVariant Identifiers: chr12:g.116408392T>A (hg19) ; chr12:g.115970587T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970587T>A , CM000674.2:g.115970587T>A	GRCh38
NC_000012.11:g.116408392T>A , CM000674.1:g.116408392T>A	GRCh37
NC_000012.10:g.114892775T>A	NCBI36
NG_023366.1:g.311600A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.6067+7A>T MANE Select	ENSP00000281928.3:n.6067+7A>T
ENST00000548784.2:n.2281+7A>T
ENST00000648379.1:n.4435+7A>T
ENST00000648737.1:n.5831+7A>T
ENST00000648825.1:n.4252+7A>T
ENST00000648916.1:n.4078+7A>T
ENST00000649607.1:c.4251+7A>T
ENST00000649775.1:c.2556+7A>T
ENST00000650226.1:c.6103+7A>T	ENSP00000496981.1:n.6103+7A>T
ENST00000281928.7:c.6067+7A>T	ENSP00000281928.3:n.6067+7A>T
NM_015335.4:c.6067+7A>T	NP_056150.1:n.6067+7A>T
XM_011538080.1:c.6103+7A>T	XP_011536382.1:n.6103+7A>T
XM_011538081.1:c.6100+7A>T	XP_011536383.1:n.6100+7A>T
XM_011538082.1:c.6073+7A>T	XP_011536384.1:n.6073+7A>T
XM_011538080.2:c.6103+7A>T	XP_011536382.1:n.6103+7A>T
XM_011538081.2:c.6100+7A>T	XP_011536383.1:n.6100+7A>T
XM_011538082.2:c.6073+7A>T	XP_011536384.1:n.6073+7A>T
XM_017019090.1:c.6064+7A>T	XP_016874579.1:n.6064+7A>T
NM_015335.5:c.6067+7A>T MANE Select	NP_056150.1:n.6067+7A>T