Canonical Allele Identifier: CA510315051
Gene: GDF5 HGNC NCBI

Linked Data

dbSNP Id: rs1330736378
gnomAD v3: 20-35438430-C-T
gnomAD v4: 20-35438430-C-T
MyVariant Identifiers: chr20:g.34026222C>T (hg19) chr20:g.35438430C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.35438430C>T , CM000682.2:g.35438430C>T GRCh38
NC_000020.10:g.34026222C>T , CM000682.1:g.34026222C>T GRCh37
NC_000020.9:g.33489636C>T NCBI36
NG_008076.2:g.4790G>A
NG_008076.3:g.21317G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374372.1:c.-241-261G>A ENSP00000363492.1:n.-241-261G>A
XM_011529075.1:c.-241-261G>A XP_011527377.1:n.-241-261G>A
XM_011529076.1:c.-241-261G>A XP_011527378.1:n.-241-261G>A
NM_001319138.1:c.-241-261G>A NP_001306067.1:n.-241-261G>A
NM_001319138.2:c.-241-261G>A NP_001306067.1:n.-241-261G>A
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