Canonical Allele Identifier: CA119569
Gene: GDF5 HGNC NCBI
GDF5-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 8386
ClinVar RCV Id: RCV000008893 RCV000008894
dbSNP Id: rs74315388
MyVariant Identifiers: chr20:g.34021900C>A (hg19) chr20:g.35434102C>A (hg38)
PubMed: PMID:16127465 PMID:16532400
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000374369.8:c.1313G>T (GDF5) MANE Select ENSP00000363489.3:p.Arg438Leu
ENST00000374369.7:c.1313G>T (GDF5) ENSP00000363489.3:p.Arg438Leu
ENST00000374372.1:c.1313G>T (GDF5) ENSP00000363492.1:p.Arg438Leu
ENST00000374375.1:c.-57C>A (GDF5-AS1) ENSP00000363495.1:n.-57C>A
NM_000557.4:c.1313G>T (GDF5) NP_000548.2:p.Arg438Leu
XM_011529075.1:c.1313G>T (GDF5) XP_011527377.1:p.Arg438Leu
XM_011529076.1:c.1313G>T (GDF5) XP_011527378.1:p.Arg438Leu
NM_001319138.1:c.1313G>T (GDF5) NP_001306067.1:p.Arg438Leu
NM_001355428.1:c.-57C>A (GDF5-AS1) NP_001342357.1:n.-57C>A
NM_000557.5:c.1313G>T (GDF5) MANE Select NP_000548.2:p.Arg438Leu
NM_001319138.2:c.1313G>T (GDF5) NP_001306067.1:p.Arg438Leu
NR_161326.1:n.386C>A (GDF5-AS1)
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