Canonical Allele Identifier: CA2652618032
Gene: GDF5 HGNC NCBI

Linked Data

gnomAD v4: 20-35438181-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.35438181T>G , CM000682.2:g.35438181T>G GRCh38
NC_000020.10:g.34025961T>G , CM000682.1:g.34025961T>G GRCh37
NC_000020.9:g.33489375T>G NCBI36
NG_008076.2:g.5039A>C
NG_008076.3:g.21566A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000374369.8:c.-253A>C MANE Select ENSP00000363489.3:n.-253A>C
ENST00000374369.7:c.-253A>C ENSP00000363489.3:n.-253A>C
ENST00000374372.1:c.-241-12A>C ENSP00000363492.1:n.-241-12A>C
NM_000557.4:c.-253A>C NP_000548.2:n.-253A>C
XM_011529075.1:c.-241-12A>C XP_011527377.1:n.-241-12A>C
XM_011529076.1:c.-241-12A>C XP_011527378.1:n.-241-12A>C
NM_001319138.1:c.-241-12A>C NP_001306067.1:n.-241-12A>C
NM_000557.5:c.-253A>C MANE Select NP_000548.2:n.-253A>C
NM_001319138.2:c.-241-12A>C NP_001306067.1:n.-241-12A>C
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