Canonical Allele Identifier: CA2652618017
Gene: GDF5 HGNC NCBI

Linked Data

gnomAD v4: 20-35438172-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.35438172G>T , CM000682.2:g.35438172G>T GRCh38
NC_000020.10:g.34025952G>T , CM000682.1:g.34025952G>T GRCh37
NC_000020.9:g.33489366G>T NCBI36
NG_008076.2:g.5048C>A
NG_008076.3:g.21575C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374369.8:c.-244C>A MANE Select ENSP00000363489.3:n.-244C>A
ENST00000374369.7:c.-244C>A ENSP00000363489.3:n.-244C>A
ENST00000374372.1:c.-241-3C>A ENSP00000363492.1:n.-241-3C>A
NM_000557.4:c.-244C>A NP_000548.2:n.-244C>A
XM_011529075.1:c.-241-3C>A XP_011527377.1:n.-241-3C>A
XM_011529076.1:c.-241-3C>A XP_011527378.1:n.-241-3C>A
NM_001319138.1:c.-241-3C>A NP_001306067.1:n.-241-3C>A
NM_000557.5:c.-244C>A MANE Select NP_000548.2:n.-244C>A
NM_001319138.2:c.-241-3C>A NP_001306067.1:n.-241-3C>A
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