Canonical Allele Identifier: CA6810699

Gene: MED13L

Linked Data

• ClinVar Variation Id: 1230260
• ClinVar RCV Id: RCV001614717
• dbSNP Id: rs367828106
• ExAC: 12:116420458 G / A
• gnomAD v2: 12-116420458-G-A
• gnomAD v3: 12-115982653-G-A
• gnomAD v4: 12-115982653-G-A
• MyVariant Identifiers: chr12:g.116420458G>A (hg19) ; chr12:g.115982653G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982653G>A , CM000674.2:g.115982653G>A	GRCh38
NC_000012.11:g.116420458G>A , CM000674.1:g.116420458G>A	GRCh37
NC_000012.10:g.114904841G>A	NCBI36
NG_023366.1:g.299534C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4956-50C>T MANE Select	ENSP00000281928.3:n.4956-50C>T
ENST00000549786.2:c.4384-50C>T
ENST00000648379.1:n.3324-50C>T
ENST00000648737.1:n.4720-50C>T
ENST00000648825.1:n.1696-50C>T
ENST00000648916.1:n.2967-50C>T
ENST00000649146.1:n.2149C>T
ENST00000649607.1:c.3140-50C>T
ENST00000649775.1:c.1453-58C>T
ENST00000650226.1:c.4956-50C>T	ENSP00000496981.1:n.4956-50C>T
ENST00000281928.7:c.4956-50C>T	ENSP00000281928.3:n.4956-50C>T
ENST00000549786.1:c.320-50C>T
NM_015335.4:c.4956-50C>T	NP_056150.1:n.4956-50C>T
XM_011538080.1:c.4956-50C>T	XP_011536382.1:n.4956-50C>T
XM_011538081.1:c.4953-50C>T	XP_011536383.1:n.4953-50C>T
XM_011538082.1:c.4926-50C>T	XP_011536384.1:n.4926-50C>T
XM_011538080.2:c.4956-50C>T	XP_011536382.1:n.4956-50C>T
XM_011538081.2:c.4953-50C>T	XP_011536383.1:n.4953-50C>T
XM_011538082.2:c.4926-50C>T	XP_011536384.1:n.4926-50C>T
XM_017019090.1:c.4953-50C>T	XP_016874579.1:n.4953-50C>T
NM_015335.5:c.4956-50C>T MANE Select	NP_056150.1:n.4956-50C>T