Canonical Allele Identifier: CA314131389

Gene: GDF5 GDF5-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35433441C>T , CM000682.2:g.35433441C>T	GRCh38
NC_000020.10:g.34021239C>T , CM000682.1:g.34021239C>T	GRCh37
NC_000020.9:g.33484653C>T	NCBI36
NG_008076.2:g.9779G>A
NG_008076.3:g.26306G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374369.8:c.*468G>A (GDF5) MANE Select	ENSP00000363489.3:n.*468G>A
ENST00000374369.7:c.*468G>A (GDF5)	ENSP00000363489.3:n.*468G>A
ENST00000374372.1:c.*468G>A (GDF5)	ENSP00000363492.1:n.*468G>A
ENST00000374375.1:c.-308+278C>T (GDF5-AS1)	ENSP00000363495.1:n.-308+278C>T
NM_000557.4:c.*468G>A (GDF5)	NP_000548.2:n.*468G>A
XM_011529075.1:c.*468G>A (GDF5)	XP_011527377.1:n.*468G>A
XM_011529076.1:c.*468G>A (GDF5)	XP_011527378.1:n.*468G>A
NM_001319138.1:c.*468G>A (GDF5)	NP_001306067.1:n.*468G>A
NM_001355428.1:c.-308+278C>T (GDF5-AS1)	NP_001342357.1:n.-308+278C>T
NM_000557.5:c.*468G>A (GDF5) MANE Select	NP_000548.2:n.*468G>A
NM_001319138.2:c.*468G>A (GDF5)	NP_001306067.1:n.*468G>A
NR_161326.1:n.135+278C>T (GDF5-AS1)