Canonical Allele Identifier: CA408741621

Gene: GDF5 GDF5-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35434749G>T , CM000682.2:g.35434749G>T	GRCh38
NC_000020.10:g.34022547G>T , CM000682.1:g.34022547G>T	GRCh37
NC_000020.9:g.33485961G>T	NCBI36
NG_008076.2:g.8471C>A
NG_008076.3:g.24998C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000557.5:c.666C>A (GDF5) MANE Select	NP_000548.2:p.Tyr222Ter
ENST00000374369.8:c.666C>A (GDF5) MANE Select	ENSP00000363489.3:p.Tyr222Ter
NM_000557.4:c.666C>A (GDF5)	NP_000548.2:p.Tyr222Ter
NM_001319138.1:c.666C>A (GDF5)	NP_001306067.1:p.Tyr222Ter
NM_001319138.2:c.666C>A (GDF5)	NP_001306067.1:p.Tyr222Ter
NM_001355428.1:c.591G>T (GDF5-AS1)	NP_001342357.1:p.Thr197=
ENST00000374369.7:c.666C>A (GDF5)	ENSP00000363489.3:p.Tyr222Ter
ENST00000374372.1:c.666C>A (GDF5)	ENSP00000363492.1:p.Tyr222Ter
ENST00000374375.1:c.591G>T (GDF5-AS1)	ENSP00000363495.1:p.Thr197=
XM_011529075.1:c.666C>A (GDF5)	XP_011527377.1:p.Tyr222Ter
XM_011529076.1:c.666C>A (GDF5)	XP_011527378.1:p.Tyr222Ter