Canonical Allele Identifier: CA386890172
Gene: MED13L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115997010C>A , CM000674.2:g.115997010C>A GRCh38
NC_000012.11:g.116434815C>A , CM000674.1:g.116434815C>A GRCh37
NC_000012.10:g.114919198C>A NCBI36
NG_023366.1:g.285177G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.2790G>T MANE Select ENSP00000281928.3:p.Lys930Asn
ENST00000548743.2:c.2760G>T ENSP00000448553.2:p.Lys920Asn
ENST00000549786.2:c.2218G>T
ENST00000647927.1:n.3163G>T
ENST00000648173.1:n.1585G>T
ENST00000648379.1:n.1158G>T
ENST00000648737.1:n.2554G>T
ENST00000648916.1:n.801G>T
ENST00000649607.1:c.974G>T
ENST00000650226.1:c.2790G>T ENSP00000496981.1:p.Lys930Asn
ENST00000281928.7:c.2790G>T ENSP00000281928.3:p.Lys930Asn
NM_015335.4:c.2790G>T NP_056150.1:p.Lys930Asn
XM_011538080.1:c.2790G>T XP_011536382.1:p.Lys930Asn
XM_011538081.1:c.2787G>T XP_011536383.1:p.Lys929Asn
XM_011538082.1:c.2760G>T XP_011536384.1:p.Lys920Asn
XM_011538080.2:c.2790G>T XP_011536382.1:p.Lys930Asn
XM_011538081.2:c.2787G>T XP_011536383.1:p.Lys929Asn
XM_011538082.2:c.2760G>T XP_011536384.1:p.Lys920Asn
XM_017019090.1:c.2787G>T XP_016874579.1:p.Lys929Asn
NM_015335.5:c.2790G>T MANE Select NP_056150.1:p.Lys930Asn