Canonical Allele Identifier: CA386898383
Gene: MED13L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.116012896C>G , CM000674.2:g.116012896C>G GRCh38
NC_000012.11:g.116450701C>G , CM000674.1:g.116450701C>G GRCh37
NC_000012.10:g.114935084C>G NCBI36
NG_023366.1:g.269291G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.1181G>C MANE Select ENSP00000281928.3:p.Ser394Thr
ENST00000548743.2:c.1151G>C ENSP00000448553.2:p.Ser384Thr
ENST00000549786.2:c.609G>C
ENST00000647567.1:c.1088G>C ENSP00000497136.1:p.Ser363Thr
ENST00000648737.1:n.945G>C
ENST00000650226.1:c.1181G>C ENSP00000496981.1:p.Ser394Thr
ENST00000281928.7:c.1181G>C ENSP00000281928.3:p.Ser394Thr
NM_015335.4:c.1181G>C NP_056150.1:p.Ser394Thr
XM_011538080.1:c.1181G>C XP_011536382.1:p.Ser394Thr
XM_011538081.1:c.1181G>C XP_011536383.1:p.Ser394Thr
XM_011538082.1:c.1151G>C XP_011536384.1:p.Ser384Thr
XM_011538080.2:c.1181G>C XP_011536382.1:p.Ser394Thr
XM_011538081.2:c.1181G>C XP_011536383.1:p.Ser394Thr
XM_011538082.2:c.1151G>C XP_011536384.1:p.Ser384Thr
XM_017019090.1:c.1181G>C XP_016874579.1:p.Ser394Thr
NM_015335.5:c.1181G>C MANE Select NP_056150.1:p.Ser394Thr