Canonical Allele Identifier: CA1143537844
Community Standard Title: NM_005857.5(ZMPSTE24):c.54T= (p.Arg18=)
Gene: ZMPSTE24 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40258325T= , CM000663.2:g.40258325T= GRCh38
NC_000001.10:g.40723997T= , CM000663.1:g.40723997T= GRCh37
NC_000001.9:g.40496584T= NCBI36
NG_008695.1:g.5265T= , LRG_212:g.5265T=

Transcript Alleles

HGVS Amino-acid Change
NM_005857.5:c.54T= MANE Select NP_005848.2:p.Arg18=
ENST00000372759.4:c.54T= MANE Select ENSP00000361845.3:p.Arg18=
NM_005857.4:c.54T= NP_005848.2:p.Arg18=
ENST00000372759.3:c.54T= ENSP00000361845.3:p.Arg18=
ENST00000472583.1:n.87T=
ENST00000479131.5:n.90T=
ENST00000674703.1:c.54T= ENSP00000501674.1:p.Arg18=
ENST00000675754.1:c.54T= ENSP00000502555.1:p.Arg18=
ENST00000675937.1:c.54T= ENSP00000502683.1:p.Arg18=
XM_011540486.1:c.-346T= XP_011538788.1:n.-346T=
XM_011540487.1:c.54T= XP_011538789.1:p.Arg18=
XR_001736906.2:n.248T=