Canonical Allele Identifier: CA119561
Gene: GDF5 HGNC NCBI
GDF5-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 8378
ClinVar RCV Id: RCV000008884 RCV002054427 RCV003129749
dbSNP Id: rs74315386
gnomAD v4: 20-35434514-G-A
COSMIC: COSM3379025 COSM3379026 COSM3379027
MyVariant Identifiers: chr20:g.34022312G>A (hg19) chr20:g.35434514G>A (hg38)
PubMed: PMID:9024575 PMID:9288091
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.35434514G>A , CM000682.2:g.35434514G>A GRCh38
NC_000020.10:g.34022312G>A , CM000682.1:g.34022312G>A GRCh37
NC_000020.9:g.33485726G>A NCBI36
NG_008076.2:g.8706C>T
NG_008076.3:g.25233C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000374369.8:c.901C>T (GDF5) MANE Select ENSP00000363489.3:p.Arg301Ter
ENST00000374369.7:c.901C>T (GDF5) ENSP00000363489.3:p.Arg301Ter
ENST00000374372.1:c.901C>T (GDF5) ENSP00000363492.1:p.Arg301Ter
ENST00000374375.1:c.356G>A (GDF5-AS1) ENSP00000363495.1:p.Arg119Gln
NM_000557.4:c.901C>T (GDF5) NP_000548.2:p.Arg301Ter
XM_011529075.1:c.901C>T (GDF5) XP_011527377.1:p.Arg301Ter
XM_011529076.1:c.901C>T (GDF5) XP_011527378.1:p.Arg301Ter
NM_001319138.1:c.901C>T (GDF5) NP_001306067.1:p.Arg301Ter
NM_001355428.1:c.356G>A (GDF5-AS1) NP_001342357.1:p.Arg119Gln
NM_000557.5:c.901C>T (GDF5) MANE Select NP_000548.2:p.Arg301Ter
NM_001319138.2:c.901C>T (GDF5) NP_001306067.1:p.Arg301Ter
NR_161326.1:n.798G>A (GDF5-AS1)
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