Canonical Allele Identifier: CA408738150

Gene: GDF5 GDF5-AS1

Linked Data

• dbSNP Id: rs2062455848
• gnomAD v3: 20-35434037-A-C
• gnomAD v4: 20-35434037-A-C
• MyVariant Identifiers: chr20:g.34021835A>C (hg19) ; chr20:g.35434037A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35434037A>C , CM000682.2:g.35434037A>C	GRCh38
NC_000020.10:g.34021835A>C , CM000682.1:g.34021835A>C	GRCh37
NC_000020.9:g.33485249A>C	NCBI36
NG_008076.2:g.9183T>G
NG_008076.3:g.25710T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374369.8:c.1378T>G (GDF5) MANE Select	ENSP00000363489.3:p.Ser460Ala
ENST00000374369.7:c.1378T>G (GDF5)	ENSP00000363489.3:p.Ser460Ala
ENST00000374372.1:c.1378T>G (GDF5)	ENSP00000363492.1:p.Ser460Ala
ENST00000374375.1:c.-122A>C (GDF5-AS1)	ENSP00000363495.1:n.-122A>C
NM_000557.4:c.1378T>G (GDF5)	NP_000548.2:p.Ser460Ala
XM_011529075.1:c.1378T>G (GDF5)	XP_011527377.1:p.Ser460Ala
XM_011529076.1:c.1378T>G (GDF5)	XP_011527378.1:p.Ser460Ala
NM_001319138.1:c.1378T>G (GDF5)	NP_001306067.1:p.Ser460Ala
NM_001355428.1:c.-122A>C (GDF5-AS1)	NP_001342357.1:n.-122A>C
NM_000557.5:c.1378T>G (GDF5) MANE Select	NP_000548.2:p.Ser460Ala
NM_001319138.2:c.1378T>G (GDF5)	NP_001306067.1:p.Ser460Ala
NR_161326.1:n.321A>C (GDF5-AS1)