Canonical Allele Identifier: CA2361649347
Gene: GDF5 HGNC NCBI
GDF5-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.35434216C= , CM000682.2:g.35434216C= GRCh38
NC_000020.10:g.34022014C= , CM000682.1:g.34022014C= GRCh37
NC_000020.9:g.33485428C= NCBI36
NG_008076.2:g.9004G=
NG_008076.3:g.25531G=

Transcript Alleles

HGVS Amino-acid change
ENST00000374369.8:c.1199G= (GDF5) MANE Select ENSP00000363489.3:p.Cys400=
ENST00000374369.7:c.1199G= (GDF5) ENSP00000363489.3:p.Cys400=
ENST00000374372.1:c.1199G= (GDF5) ENSP00000363492.1:p.Cys400=
ENST00000374375.1:c.58C= (GDF5-AS1) ENSP00000363495.1:p.Gln20=
NM_000557.4:c.1199G= (GDF5) NP_000548.2:p.Cys400=
XM_011529075.1:c.1199G= (GDF5) XP_011527377.1:p.Cys400=
XM_011529076.1:c.1199G= (GDF5) XP_011527378.1:p.Cys400=
NM_001319138.1:c.1199G= (GDF5) NP_001306067.1:p.Cys400=
NM_001355428.1:c.58C= (GDF5-AS1) NP_001342357.1:p.Gln20=
NM_000557.5:c.1199G= (GDF5) MANE Select NP_000548.2:p.Cys400=
NM_001319138.2:c.1199G= (GDF5) NP_001306067.1:p.Cys400=
NR_161326.1:n.500C= (GDF5-AS1)