Canonical Allele Identifier: CA2621141628

Gene: MED13L

Linked Data

• gnomAD v4: 12-115982699-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982699T>A , CM000674.2:g.115982699T>A	GRCh38
NC_000012.11:g.116420504T>A , CM000674.1:g.116420504T>A	GRCh37
NC_000012.10:g.114904887T>A	NCBI36
NG_023366.1:g.299488A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4956-96A>T MANE Select	ENSP00000281928.3:n.4956-96A>T
ENST00000549786.2:c.4384-96A>T
ENST00000648379.1:n.3324-96A>T
ENST00000648737.1:n.4720-96A>T
ENST00000648825.1:n.1696-96A>T
ENST00000648916.1:n.2967-96A>T
ENST00000649146.1:n.2103A>T
ENST00000649607.1:c.3140-96A>T
ENST00000649775.1:c.1453-104A>T
ENST00000650226.1:c.4956-96A>T	ENSP00000496981.1:n.4956-96A>T
ENST00000281928.7:c.4956-96A>T	ENSP00000281928.3:n.4956-96A>T
ENST00000549786.1:c.320-96A>T
NM_015335.4:c.4956-96A>T	NP_056150.1:n.4956-96A>T
XM_011538080.1:c.4956-96A>T	XP_011536382.1:n.4956-96A>T
XM_011538081.1:c.4953-96A>T	XP_011536383.1:n.4953-96A>T
XM_011538082.1:c.4926-96A>T	XP_011536384.1:n.4926-96A>T
XM_011538080.2:c.4956-96A>T	XP_011536382.1:n.4956-96A>T
XM_011538081.2:c.4953-96A>T	XP_011536383.1:n.4953-96A>T
XM_011538082.2:c.4926-96A>T	XP_011536384.1:n.4926-96A>T
XM_017019090.1:c.4953-96A>T	XP_016874579.1:n.4953-96A>T
NM_015335.5:c.4956-96A>T MANE Select	NP_056150.1:n.4956-96A>T