Canonical Allele Identifier: CA1017205067
Gene: GDF5 HGNC NCBI

Linked Data

dbSNP Id: rs2062483981
gnomAD v3: 20-35438282-A-G
gnomAD v4: 20-35438282-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.35438282A>G , CM000682.2:g.35438282A>G GRCh38
NC_000020.10:g.34026062A>G , CM000682.1:g.34026062A>G GRCh37
NC_000020.9:g.33489476A>G NCBI36
NG_008076.2:g.4938T>C
NG_008076.3:g.21465T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000374372.1:c.-241-113T>C ENSP00000363492.1:n.-241-113T>C
XM_011529075.1:c.-241-113T>C XP_011527377.1:n.-241-113T>C
XM_011529076.1:c.-241-113T>C XP_011527378.1:n.-241-113T>C
NM_001319138.1:c.-241-113T>C NP_001306067.1:n.-241-113T>C
NM_001319138.2:c.-241-113T>C NP_001306067.1:n.-241-113T>C
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