Canonical Allele Identifier: CA6811048

Gene: MED13L

Linked Data

• ClinVar Variation Id: 1256699
• ClinVar RCV Id: RCV001673308
• dbSNP Id: rs199823264
• ExAC: 12:116429789 G / A
• gnomAD v2: 12-116429789-G-A
• gnomAD v3: 12-115991984-G-A
• gnomAD v4: 12-115991984-G-A
• MyVariant Identifiers: chr12:g.116429789G>A (hg19) ; chr12:g.115991984G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991984G>A , CM000674.2:g.115991984G>A	GRCh38
NC_000012.11:g.116429789G>A , CM000674.1:g.116429789G>A	GRCh37
NC_000012.10:g.114914172G>A	NCBI36
NG_023366.1:g.290203C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2997-27C>T MANE Select	ENSP00000281928.3:n.2997-27C>T
ENST00000548743.2:c.2967-27C>T	ENSP00000448553.2:n.2967-27C>T
ENST00000549786.2:c.2425-27C>T
ENST00000648173.1:n.1792-27C>T
ENST00000648379.1:n.1365-27C>T
ENST00000648737.1:n.2761-27C>T
ENST00000648916.1:n.1008-27C>T
ENST00000649607.1:c.1181-27C>T
ENST00000650226.1:c.2997-27C>T	ENSP00000496981.1:n.2997-27C>T
ENST00000281928.7:c.2997-27C>T	ENSP00000281928.3:n.2997-27C>T
NM_015335.4:c.2997-27C>T	NP_056150.1:n.2997-27C>T
XM_011538080.1:c.2997-27C>T	XP_011536382.1:n.2997-27C>T
XM_011538081.1:c.2994-27C>T	XP_011536383.1:n.2994-27C>T
XM_011538082.1:c.2967-27C>T	XP_011536384.1:n.2967-27C>T
XM_011538080.2:c.2997-27C>T	XP_011536382.1:n.2997-27C>T
XM_011538081.2:c.2994-27C>T	XP_011536383.1:n.2994-27C>T
XM_011538082.2:c.2967-27C>T	XP_011536384.1:n.2967-27C>T
XM_017019090.1:c.2994-27C>T	XP_016874579.1:n.2994-27C>T
NM_015335.5:c.2997-27C>T MANE Select	NP_056150.1:n.2997-27C>T