Canonical Allele Identifier: CA314131439

Gene: GDF5 GDF5-AS1

Linked Data

• ClinVar Variation Id: 2211719
• ClinVar RCV Id: RCV002677228
• dbSNP Id: rs969983573
• gnomAD v2: 20-34021834-G-A
• gnomAD v4: 20-35434036-G-A
• MyVariant Identifiers: chr20:g.34021834G>A (hg19) ; chr20:g.35434036G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35434036G>A , CM000682.2:g.35434036G>A	GRCh38
NC_000020.10:g.34021834G>A , CM000682.1:g.34021834G>A	GRCh37
NC_000020.9:g.33485248G>A	NCBI36
NG_008076.2:g.9184C>T
NG_008076.3:g.25711C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374369.8:c.1379C>T (GDF5) MANE Select	ENSP00000363489.3:p.Ser460Phe
ENST00000374369.7:c.1379C>T (GDF5)	ENSP00000363489.3:p.Ser460Phe
ENST00000374372.1:c.1379C>T (GDF5)	ENSP00000363492.1:p.Ser460Phe
ENST00000374375.1:c.-123G>A (GDF5-AS1)	ENSP00000363495.1:n.-123G>A
NM_000557.4:c.1379C>T (GDF5)	NP_000548.2:p.Ser460Phe
XM_011529075.1:c.1379C>T (GDF5)	XP_011527377.1:p.Ser460Phe
XM_011529076.1:c.1379C>T (GDF5)	XP_011527378.1:p.Ser460Phe
NM_001319138.1:c.1379C>T (GDF5)	NP_001306067.1:p.Ser460Phe
NM_001355428.1:c.-123G>A (GDF5-AS1)	NP_001342357.1:n.-123G>A
NM_000557.5:c.1379C>T (GDF5) MANE Select	NP_000548.2:p.Ser460Phe
NM_001319138.2:c.1379C>T (GDF5)	NP_001306067.1:p.Ser460Phe
NR_161326.1:n.320G>A (GDF5-AS1)