Canonical Allele Identifier: CA2621142317

Gene: MED13L

Linked Data

• gnomAD v4: 12-115984501-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984501G>A , CM000674.2:g.115984501G>A	GRCh38
NC_000012.11:g.116422306G>A , CM000674.1:g.116422306G>A	GRCh37
NC_000012.10:g.114906689G>A	NCBI36
NG_023366.1:g.297686C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4339-129C>T MANE Select	ENSP00000281928.3:n.4339-129C>T
ENST00000549786.2:c.3767-129C>T
ENST00000648379.1:n.2707-129C>T
ENST00000648737.1:n.4103-129C>T
ENST00000648825.1:n.1079-129C>T
ENST00000648916.1:n.2350-129C>T
ENST00000649146.1:n.940C>T
ENST00000649607.1:c.2523-129C>T
ENST00000649775.1:c.836-129C>T
ENST00000650091.1:n.2315-129C>T
ENST00000650226.1:c.4339-129C>T	ENSP00000496981.1:n.4339-129C>T
ENST00000281928.7:c.4339-129C>T	ENSP00000281928.3:n.4339-129C>T
NM_015335.4:c.4339-129C>T	NP_056150.1:n.4339-129C>T
XM_011538080.1:c.4339-129C>T	XP_011536382.1:n.4339-129C>T
XM_011538081.1:c.4336-129C>T	XP_011536383.1:n.4336-129C>T
XM_011538082.1:c.4309-129C>T	XP_011536384.1:n.4309-129C>T
XM_011538080.2:c.4339-129C>T	XP_011536382.1:n.4339-129C>T
XM_011538081.2:c.4336-129C>T	XP_011536383.1:n.4336-129C>T
XM_011538082.2:c.4309-129C>T	XP_011536384.1:n.4309-129C>T
XM_017019090.1:c.4336-129C>T	XP_016874579.1:n.4336-129C>T
NM_015335.5:c.4339-129C>T MANE Select	NP_056150.1:n.4339-129C>T