Canonical Allele Identifier: CA10588699

Gene: GDF5 GDF5-AS1

Linked Data

• ClinVar Variation Id: 265176
• ClinVar RCV Id: RCV000255178 ; RCV002307474
• dbSNP Id: rs371230143
• gnomAD v3: 20-35433967-T-C
• gnomAD v4: 20-35433967-T-C
• MyVariant Identifiers: chr20:g.34021765T>C (hg19) ; chr20:g.35433967T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35433967T>C , CM000682.2:g.35433967T>C	GRCh38
NC_000020.10:g.34021765T>C , CM000682.1:g.34021765T>C	GRCh37
NC_000020.9:g.33485179T>C	NCBI36
NG_008076.2:g.9253A>G
NG_008076.3:g.25780A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374369.8:c.1448A>G (GDF5) MANE Select	ENSP00000363489.3:p.Asn483Ser
ENST00000374369.7:c.1448A>G (GDF5)	ENSP00000363489.3:p.Asn483Ser
ENST00000374372.1:c.1448A>G (GDF5)	ENSP00000363492.1:p.Asn483Ser
ENST00000374375.1:c.-192T>C (GDF5-AS1)	ENSP00000363495.1:n.-192T>C
NM_000557.4:c.1448A>G (GDF5)	NP_000548.2:p.Asn483Ser
XM_011529075.1:c.1448A>G (GDF5)	XP_011527377.1:p.Asn483Ser
XM_011529076.1:c.1448A>G (GDF5)	XP_011527378.1:p.Asn483Ser
NM_001319138.1:c.1448A>G (GDF5)	NP_001306067.1:p.Asn483Ser
NM_001355428.1:c.-192T>C (GDF5-AS1)	NP_001342357.1:n.-192T>C
NM_000557.5:c.1448A>G (GDF5) MANE Select	NP_000548.2:p.Asn483Ser
NM_001319138.2:c.1448A>G (GDF5)	NP_001306067.1:p.Asn483Ser
NR_161326.1:n.251T>C (GDF5-AS1)