Canonical Allele Identifier: CA314131717
Gene: GDF5 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.35436939A>G
gnomAD v3:
20:35436939 A / G
gnomAD v4:
chr20-35436939-A-G
Joint Max Group AF 0.94079617 (NFE)
Genomes Max Group AF 0.94079617 (NFE)
dbSNP:
224334
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.35436939A>G , CM000682.2:g.35436939A>G GRCh38
NG_008076.2:g.6281T>C
NG_008076.3:g.22808T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374369.8:c.631+359T>C MANE Select ENSP00000363489.3:n.631+359T>C
ENST00000374369.7:c.631+359T>C ENSP00000363489.3:n.631+359T>C
ENST00000374372.1:c.631+359T>C ENSP00000363492.1:n.631+359T>C
NM_000557.4:c.631+359T>C NP_000548.2:n.631+359T>C
XM_011529075.1:c.631+359T>C XP_011527377.1:n.631+359T>C
XM_011529076.1:c.631+359T>C XP_011527378.1:n.631+359T>C
NM_001319138.1:c.631+359T>C NP_001306067.1:n.631+359T>C
NM_000557.5:c.631+359T>C MANE Select NP_000548.2:n.631+359T>C
NM_001319138.2:c.631+359T>C NP_001306067.1:n.631+359T>C
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