Canonical Allele Identifier: CA314131407

Gene: GDF5 GDF5-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35433650C>G , CM000682.2:g.35433650C>G	GRCh38
NC_000020.10:g.34021448C>G , CM000682.1:g.34021448C>G	GRCh37
NC_000020.9:g.33484862C>G	NCBI36
NG_008076.2:g.9570G>C
NG_008076.3:g.26097G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000557.5:c.*259G>C (GDF5) MANE Select	NP_000548.2:n.*259G>C
ENST00000374369.8:c.*259G>C (GDF5) MANE Select	ENSP00000363489.3:n.*259G>C
NM_000557.4:c.*259G>C (GDF5)	NP_000548.2:n.*259G>C
NM_001319138.1:c.*259G>C (GDF5)	NP_001306067.1:n.*259G>C
NM_001319138.2:c.*259G>C (GDF5)	NP_001306067.1:n.*259G>C
NM_001355428.1:c.-307-202C>G (GDF5-AS1)	NP_001342357.1:n.-307-202C>G
NR_161326.1:n.136-202C>G (GDF5-AS1)
ENST00000374369.7:c.*259G>C (GDF5)	ENSP00000363489.3:n.*259G>C
ENST00000374372.1:c.*259G>C (GDF5)	ENSP00000363492.1:n.*259G>C
ENST00000374375.1:c.-307-202C>G (GDF5-AS1)	ENSP00000363495.1:n.-307-202C>G
XM_011529075.1:c.*259G>C (GDF5)	XP_011527377.1:n.*259G>C
XM_011529076.1:c.*259G>C (GDF5)	XP_011527378.1:n.*259G>C