Canonical Allele Identifier: CA386888953
Gene: MED13L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115991848C>T , CM000674.2:g.115991848C>T GRCh38
NC_000012.11:g.116429653C>T , CM000674.1:g.116429653C>T GRCh37
NC_000012.10:g.114914036C>T NCBI36
NG_023366.1:g.290339G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.3106G>A MANE Select ENSP00000281928.3:p.Gly1036Arg
ENST00000548743.2:c.3076G>A ENSP00000448553.2:p.Gly1026Arg
ENST00000549786.2:c.2534G>A
ENST00000648173.1:n.1901G>A
ENST00000648379.1:n.1474G>A
ENST00000648737.1:n.2870G>A
ENST00000648916.1:n.1117G>A
ENST00000649607.1:c.1290G>A
ENST00000650226.1:c.3106G>A ENSP00000496981.1:p.Gly1036Arg
ENST00000281928.7:c.3106G>A ENSP00000281928.3:p.Gly1036Arg
NM_015335.4:c.3106G>A NP_056150.1:p.Gly1036Arg
XM_011538080.1:c.3106G>A XP_011536382.1:p.Gly1036Arg
XM_011538081.1:c.3103G>A XP_011536383.1:p.Gly1035Arg
XM_011538082.1:c.3076G>A XP_011536384.1:p.Gly1026Arg
XM_011538080.2:c.3106G>A XP_011536382.1:p.Gly1036Arg
XM_011538081.2:c.3103G>A XP_011536383.1:p.Gly1035Arg
XM_011538082.2:c.3076G>A XP_011536384.1:p.Gly1026Arg
XM_017019090.1:c.3103G>A XP_016874579.1:p.Gly1035Arg
NM_015335.5:c.3106G>A MANE Select NP_056150.1:p.Gly1036Arg