Canonical Allele Identifier: CA2621141636

Gene: MED13L

Linked Data

• gnomAD v4: 12-115982718-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982718A>C , CM000674.2:g.115982718A>C	GRCh38
NC_000012.11:g.116420523A>C , CM000674.1:g.116420523A>C	GRCh37
NC_000012.10:g.114904906A>C	NCBI36
NG_023366.1:g.299469T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4956-115T>G MANE Select	ENSP00000281928.3:n.4956-115T>G
ENST00000549786.2:c.4384-115T>G
ENST00000648379.1:n.3324-115T>G
ENST00000648737.1:n.4720-115T>G
ENST00000648825.1:n.1696-115T>G
ENST00000648916.1:n.2967-115T>G
ENST00000649146.1:n.2084T>G
ENST00000649607.1:c.3140-115T>G
ENST00000649775.1:c.1453-123T>G
ENST00000650226.1:c.4956-115T>G	ENSP00000496981.1:n.4956-115T>G
ENST00000281928.7:c.4956-115T>G	ENSP00000281928.3:n.4956-115T>G
ENST00000549786.1:c.320-115T>G
NM_015335.4:c.4956-115T>G	NP_056150.1:n.4956-115T>G
XM_011538080.1:c.4956-115T>G	XP_011536382.1:n.4956-115T>G
XM_011538081.1:c.4953-115T>G	XP_011536383.1:n.4953-115T>G
XM_011538082.1:c.4926-115T>G	XP_011536384.1:n.4926-115T>G
XM_011538080.2:c.4956-115T>G	XP_011536382.1:n.4956-115T>G
XM_011538081.2:c.4953-115T>G	XP_011536383.1:n.4953-115T>G
XM_011538082.2:c.4926-115T>G	XP_011536384.1:n.4926-115T>G
XM_017019090.1:c.4953-115T>G	XP_016874579.1:n.4953-115T>G
NM_015335.5:c.4956-115T>G MANE Select	NP_056150.1:n.4956-115T>G