Canonical Allele Identifier: CA2621141152

Gene: MED13L

Linked Data

• gnomAD v4: 12-115982259-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982259T>A , CM000674.2:g.115982259T>A	GRCh38
NC_000012.11:g.116420064T>A , CM000674.1:g.116420064T>A	GRCh37
NC_000012.10:g.114904447T>A	NCBI36
NG_023366.1:g.299928A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5175+125A>T MANE Select	ENSP00000281928.3:n.5175+125A>T
ENST00000549786.2:c.4728A>T
ENST00000648379.1:n.3543+125A>T
ENST00000648737.1:n.4939+125A>T
ENST00000648825.1:n.2040A>T
ENST00000648916.1:n.3186+125A>T
ENST00000649146.1:n.2543A>T
ENST00000649607.1:c.3359+125A>T
ENST00000649775.1:c.1664+125A>T
ENST00000650226.1:c.5175+125A>T	ENSP00000496981.1:n.5175+125A>T
ENST00000281928.7:c.5175+125A>T	ENSP00000281928.3:n.5175+125A>T
ENST00000549786.1:c.664A>T
ENST00000552340.1:c.207+125A>T	ENSP00000449876.1:n.207+125A>T
NM_015335.4:c.5175+125A>T	NP_056150.1:n.5175+125A>T
XM_011538080.1:c.5175+125A>T	XP_011536382.1:n.5175+125A>T
XM_011538081.1:c.5172+125A>T	XP_011536383.1:n.5172+125A>T
XM_011538082.1:c.5145+125A>T	XP_011536384.1:n.5145+125A>T
XM_011538080.2:c.5175+125A>T	XP_011536382.1:n.5175+125A>T
XM_011538081.2:c.5172+125A>T	XP_011536383.1:n.5172+125A>T
XM_011538082.2:c.5145+125A>T	XP_011536384.1:n.5145+125A>T
XM_017019090.1:c.5172+125A>T	XP_016874579.1:n.5172+125A>T
NM_015335.5:c.5175+125A>T MANE Select	NP_056150.1:n.5175+125A>T