Canonical Allele Identifier: CA386898199
Gene: MED13L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.116012811G>T , CM000674.2:g.116012811G>T GRCh38
NC_000012.11:g.116450616G>T , CM000674.1:g.116450616G>T GRCh37
NC_000012.10:g.114934999G>T NCBI36
NG_023366.1:g.269376C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.1266C>A MANE Select ENSP00000281928.3:p.Ser422Arg
ENST00000548743.2:c.1236C>A ENSP00000448553.2:p.Ser412Arg
ENST00000549786.2:c.694C>A
ENST00000647567.1:c.1173C>A ENSP00000497136.1:p.Ser391Arg
ENST00000648737.1:n.1030C>A
ENST00000650226.1:c.1266C>A ENSP00000496981.1:p.Ser422Arg
ENST00000281928.7:c.1266C>A ENSP00000281928.3:p.Ser422Arg
NM_015335.4:c.1266C>A NP_056150.1:p.Ser422Arg
XM_011538080.1:c.1266C>A XP_011536382.1:p.Ser422Arg
XM_011538081.1:c.1266C>A XP_011536383.1:p.Ser422Arg
XM_011538082.1:c.1236C>A XP_011536384.1:p.Ser412Arg
XM_011538080.2:c.1266C>A XP_011536382.1:p.Ser422Arg
XM_011538081.2:c.1266C>A XP_011536383.1:p.Ser422Arg
XM_011538082.2:c.1236C>A XP_011536384.1:p.Ser412Arg
XM_017019090.1:c.1266C>A XP_016874579.1:p.Ser422Arg
NM_015335.5:c.1266C>A MANE Select NP_056150.1:p.Ser422Arg