Canonical Allele Identifier: CA2361649300
Community Standard Title: NM_000557.5(GDF5):c.1313G= (p.Arg438=)
Gene: GDF5 HGNC NCBI
GDF5-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.35434102C= , CM000682.2:g.35434102C= GRCh38
NC_000020.10:g.34021900C= , CM000682.1:g.34021900C= GRCh37
NC_000020.9:g.33485314C= NCBI36
NG_008076.2:g.9118G=
NG_008076.3:g.25645G=

Transcript Alleles

HGVS Amino-acid Change
NM_000557.5:c.1313G= (GDF5) MANE Select NP_000548.2:p.Arg438=
ENST00000374369.8:c.1313G= (GDF5) MANE Select ENSP00000363489.3:p.Arg438=
NM_000557.4:c.1313G= (GDF5) NP_000548.2:p.Arg438=
NM_001319138.1:c.1313G= (GDF5) NP_001306067.1:p.Arg438=
NM_001319138.2:c.1313G= (GDF5) NP_001306067.1:p.Arg438=
NM_001355428.1:c.-57C= (GDF5-AS1) NP_001342357.1:n.-57C=
NR_161326.1:n.386C= (GDF5-AS1)
ENST00000374369.7:c.1313G= (GDF5) ENSP00000363489.3:p.Arg438=
ENST00000374372.1:c.1313G= (GDF5) ENSP00000363492.1:p.Arg438=
ENST00000374375.1:c.-57C= (GDF5-AS1) ENSP00000363495.1:n.-57C=
XM_011529075.1:c.1313G= (GDF5) XP_011527377.1:p.Arg438=
XM_011529076.1:c.1313G= (GDF5) XP_011527378.1:p.Arg438=