Canonical Allele Identifier: CA2575306733
Gene: MED13L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.116003180C>A , CM000674.2:g.116003180C>A GRCh38
NC_000012.11:g.116440985C>A , CM000674.1:g.116440985C>A GRCh37
NC_000012.10:g.114925368C>A NCBI36
NG_023366.1:g.279007G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.2470-78G>T MANE Select ENSP00000281928.3:n.2470-78G>T
ENST00000548743.2:c.2440-78G>T ENSP00000448553.2:n.2440-78G>T
ENST00000549786.2:c.1898-78G>T
ENST00000648173.1:n.1265-78G>T
ENST00000648379.1:n.760G>T
ENST00000648737.1:n.2234-78G>T
ENST00000648916.1:n.481-78G>T
ENST00000649607.1:c.657-78G>T
ENST00000650226.1:c.2470-78G>T ENSP00000496981.1:n.2470-78G>T
ENST00000281928.7:c.2470-78G>T ENSP00000281928.3:n.2470-78G>T
NM_015335.4:c.2470-78G>T NP_056150.1:n.2470-78G>T
XM_011538080.1:c.2470-78G>T XP_011536382.1:n.2470-78G>T
XM_011538081.1:c.2470-78G>T XP_011536383.1:n.2470-78G>T
XM_011538082.1:c.2440-78G>T XP_011536384.1:n.2440-78G>T
XM_011538080.2:c.2470-78G>T XP_011536382.1:n.2470-78G>T
XM_011538081.2:c.2470-78G>T XP_011536383.1:n.2470-78G>T
XM_011538082.2:c.2440-78G>T XP_011536384.1:n.2440-78G>T
XM_017019090.1:c.2470-78G>T XP_016874579.1:n.2470-78G>T
NM_015335.5:c.2470-78G>T MANE Select NP_056150.1:n.2470-78G>T