Canonical Allele Identifier: CA510481759

Gene: GDF5 GDF5-AS1

Linked Data

• COSMIC: COSM1326786 ; COSM1326787 ; COSM1326788
• MyVariant Identifiers: chr20:g.34022100C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35434302C>T , CM000682.2:g.35434302C>T	GRCh38
NC_000020.10:g.34022100C>T , CM000682.1:g.34022100C>T	GRCh37
NC_000020.9:g.33485514C>T	NCBI36
NG_008076.2:g.8918G>A
NG_008076.3:g.25445G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374369.8:c.1113G>A (GDF5) MANE Select	ENSP00000363489.3:p.Glu371=
ENST00000374369.7:c.1113G>A (GDF5)	ENSP00000363489.3:p.Glu371=
ENST00000374372.1:c.1113G>A (GDF5)	ENSP00000363492.1:p.Glu371=
ENST00000374375.1:c.144C>T (GDF5-AS1)	ENSP00000363495.1:p.Tyr48=
NM_000557.4:c.1113G>A (GDF5)	NP_000548.2:p.Glu371=
XM_011529075.1:c.1113G>A (GDF5)	XP_011527377.1:p.Glu371=
XM_011529076.1:c.1113G>A (GDF5)	XP_011527378.1:p.Glu371=
NM_001319138.1:c.1113G>A (GDF5)	NP_001306067.1:p.Glu371=
NM_001355428.1:c.144C>T (GDF5-AS1)	NP_001342357.1:p.Tyr48=
NM_000557.5:c.1113G>A (GDF5) MANE Select	NP_000548.2:p.Glu371=
NM_001319138.2:c.1113G>A (GDF5)	NP_001306067.1:p.Glu371=
NR_161326.1:n.586C>T (GDF5-AS1)