Canonical Allele Identifier: CA2621141193

Gene: MED13L

Linked Data

• gnomAD v4: 12-115982314-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982314G>C , CM000674.2:g.115982314G>C	GRCh38
NC_000012.11:g.116420119G>C , CM000674.1:g.116420119G>C	GRCh37
NC_000012.10:g.114904502G>C	NCBI36
NG_023366.1:g.299873C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5175+70C>G MANE Select	ENSP00000281928.3:n.5175+70C>G
ENST00000549786.2:c.4673C>G
ENST00000648379.1:n.3543+70C>G
ENST00000648737.1:n.4939+70C>G
ENST00000648825.1:n.1985C>G
ENST00000648916.1:n.3186+70C>G
ENST00000649146.1:n.2488C>G
ENST00000649607.1:c.3359+70C>G
ENST00000649775.1:c.1664+70C>G
ENST00000650226.1:c.5175+70C>G	ENSP00000496981.1:n.5175+70C>G
ENST00000281928.7:c.5175+70C>G	ENSP00000281928.3:n.5175+70C>G
ENST00000549786.1:c.609C>G
ENST00000552340.1:c.207+70C>G	ENSP00000449876.1:n.207+70C>G
NM_015335.4:c.5175+70C>G	NP_056150.1:n.5175+70C>G
XM_011538080.1:c.5175+70C>G	XP_011536382.1:n.5175+70C>G
XM_011538081.1:c.5172+70C>G	XP_011536383.1:n.5172+70C>G
XM_011538082.1:c.5145+70C>G	XP_011536384.1:n.5145+70C>G
XM_011538080.2:c.5175+70C>G	XP_011536382.1:n.5175+70C>G
XM_011538081.2:c.5172+70C>G	XP_011536383.1:n.5172+70C>G
XM_011538082.2:c.5145+70C>G	XP_011536384.1:n.5145+70C>G
XM_017019090.1:c.5172+70C>G	XP_016874579.1:n.5172+70C>G
NM_015335.5:c.5175+70C>G MANE Select	NP_056150.1:n.5175+70C>G