Canonical Allele Identifier: CA130349
Gene: GDF5 HGNC NCBI
GDF5-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 39515
ClinVar RCV Id: RCV000032711
dbSNP Id: rs397514519

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.35434220G>A , CM000682.2:g.35434220G>A GRCh38
NC_000020.10:g.34022018G>A , CM000682.1:g.34022018G>A GRCh37
NC_000020.9:g.33485432G>A NCBI36
NG_008076.2:g.9000C>T
NG_008076.3:g.25527C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000374369.8:c.1195C>T (GDF5) MANE Select ENSP00000363489.3:p.Arg399Cys
ENST00000374369.7:c.1195C>T (GDF5) ENSP00000363489.3:p.Arg399Cys
ENST00000374372.1:c.1195C>T (GDF5) ENSP00000363492.1:p.Arg399Cys
ENST00000374375.1:c.62G>A (GDF5-AS1) ENSP00000363495.1:p.Arg21Gln
NM_000557.4:c.1195C>T (GDF5) NP_000548.2:p.Arg399Cys
XM_011529075.1:c.1195C>T (GDF5) XP_011527377.1:p.Arg399Cys
XM_011529076.1:c.1195C>T (GDF5) XP_011527378.1:p.Arg399Cys
NM_001319138.1:c.1195C>T (GDF5) NP_001306067.1:p.Arg399Cys
NM_001355428.1:c.62G>A (GDF5-AS1) NP_001342357.1:p.Arg21Gln
NM_000557.5:c.1195C>T (GDF5) MANE Select NP_000548.2:p.Arg399Cys
NM_001319138.2:c.1195C>T (GDF5) NP_001306067.1:p.Arg399Cys
NR_161326.1:n.504G>A (GDF5-AS1)