Canonical Allele Identifier: CA2816239092
Gene: GDF5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.35438248G>T , CM000682.2:g.35438248G>T GRCh38
NC_000020.10:g.34026028G>T , CM000682.1:g.34026028G>T GRCh37
NC_000020.9:g.33489442G>T NCBI36
NG_008076.2:g.4972C>A
NG_008076.3:g.21499C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374372.1:c.-241-79C>A ENSP00000363492.1:n.-241-79C>A
XM_011529075.1:c.-241-79C>A XP_011527377.1:n.-241-79C>A
XM_011529076.1:c.-241-79C>A XP_011527378.1:n.-241-79C>A
NM_001319138.1:c.-241-79C>A NP_001306067.1:n.-241-79C>A
NM_001319138.2:c.-241-79C>A NP_001306067.1:n.-241-79C>A
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