Canonical Allele Identifier: CA2621141047

Gene: MED13L

Linked Data

• gnomAD v4: 12-115982156-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982156C>A , CM000674.2:g.115982156C>A	GRCh38
NC_000012.11:g.116419961C>A , CM000674.1:g.116419961C>A	GRCh37
NC_000012.10:g.114904344C>A	NCBI36
NG_023366.1:g.300031G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5175+228G>T MANE Select	ENSP00000281928.3:n.5175+228G>T
ENST00000549786.2:c.4831G>T
ENST00000648379.1:n.3543+228G>T
ENST00000648737.1:n.4939+228G>T
ENST00000648825.1:n.2143G>T
ENST00000648916.1:n.3186+228G>T
ENST00000649146.1:n.2646G>T
ENST00000649607.1:c.3359+228G>T
ENST00000649775.1:c.1664+228G>T
ENST00000650226.1:c.5175+228G>T	ENSP00000496981.1:n.5175+228G>T
ENST00000281928.7:c.5175+228G>T	ENSP00000281928.3:n.5175+228G>T
ENST00000549786.1:c.767G>T
ENST00000552340.1:c.207+228G>T	ENSP00000449876.1:n.207+228G>T
NM_015335.4:c.5175+228G>T	NP_056150.1:n.5175+228G>T
XM_011538080.1:c.5175+228G>T	XP_011536382.1:n.5175+228G>T
XM_011538081.1:c.5172+228G>T	XP_011536383.1:n.5172+228G>T
XM_011538082.1:c.5145+228G>T	XP_011536384.1:n.5145+228G>T
XM_011538080.2:c.5175+228G>T	XP_011536382.1:n.5175+228G>T
XM_011538081.2:c.5172+228G>T	XP_011536383.1:n.5172+228G>T
XM_011538082.2:c.5145+228G>T	XP_011536384.1:n.5145+228G>T
XM_017019090.1:c.5172+228G>T	XP_016874579.1:n.5172+228G>T
NM_015335.5:c.5175+228G>T MANE Select	NP_056150.1:n.5175+228G>T