Canonical Allele Identifier: CA314131828
Gene: GDF5 HGNC NCBI

Linked Data

dbSNP Id: rs935768692
gnomAD v3: 20-35438358-T-A
gnomAD v4: 20-35438358-T-A
MyVariant Identifiers: chr20:g.35438358T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.35438358T>A , CM000682.2:g.35438358T>A GRCh38
NG_008076.2:g.4862A>T
NG_008076.3:g.21389A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374372.1:c.-241-189A>T ENSP00000363492.1:n.-241-189A>T
XM_011529075.1:c.-241-189A>T XP_011527377.1:n.-241-189A>T
XM_011529076.1:c.-241-189A>T XP_011527378.1:n.-241-189A>T
NM_001319138.1:c.-241-189A>T NP_001306067.1:n.-241-189A>T
NM_001319138.2:c.-241-189A>T NP_001306067.1:n.-241-189A>T
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