Canonical Allele Identifier: CA408738444
Gene: GDF5 HGNC NCBI
GDF5-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.35434102C>T
GRCh37 chr20:g.34021900C>T
Revel Score:
ENST00000374369 (MANE Select) 0.824
ENST00000374372 0.824
gnomAD v3:
20:35434102 C / T
gnomAD v4:
chr20-35434102-C-T
Joint Max Group AF 0.00000124 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
dbSNP:
74315388
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000374369.8:c.1313G>A (GDF5) MANE Select ENSP00000363489.3:p.Arg438His
ENST00000374369.7:c.1313G>A (GDF5) ENSP00000363489.3:p.Arg438His
ENST00000374372.1:c.1313G>A (GDF5) ENSP00000363492.1:p.Arg438His
ENST00000374375.1:c.-57C>T (GDF5-AS1) ENSP00000363495.1:n.-57C>T
NM_000557.4:c.1313G>A (GDF5) NP_000548.2:p.Arg438His
XM_011529075.1:c.1313G>A (GDF5) XP_011527377.1:p.Arg438His
XM_011529076.1:c.1313G>A (GDF5) XP_011527378.1:p.Arg438His
NM_001319138.1:c.1313G>A (GDF5) NP_001306067.1:p.Arg438His
NM_001355428.1:c.-57C>T (GDF5-AS1) NP_001342357.1:n.-57C>T
NM_000557.5:c.1313G>A (GDF5) MANE Select NP_000548.2:p.Arg438His
NM_001319138.2:c.1313G>A (GDF5) NP_001306067.1:p.Arg438His
NR_161326.1:n.386C>T (GDF5-AS1)
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