Canonical Allele Identifier: CA510314876

Gene: GDF5 GDF5-AS1

Linked Data

• MyVariant Identifiers: chr20:g.34021731G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35433933G>C , CM000682.2:g.35433933G>C	GRCh38
NC_000020.10:g.34021731G>C , CM000682.1:g.34021731G>C	GRCh37
NC_000020.9:g.33485145G>C	NCBI36
NG_008076.2:g.9287C>G
NG_008076.3:g.25814C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374369.8:c.1482C>G (GDF5) MANE Select	ENSP00000363489.3:p.Val494=
ENST00000374369.7:c.1482C>G (GDF5)	ENSP00000363489.3:p.Val494=
ENST00000374372.1:c.1482C>G (GDF5)	ENSP00000363492.1:p.Val494=
ENST00000374375.1:c.-226G>C (GDF5-AS1)	ENSP00000363495.1:n.-226G>C
NM_000557.4:c.1482C>G (GDF5)	NP_000548.2:p.Val494=
XM_011529075.1:c.1482C>G (GDF5)	XP_011527377.1:p.Val494=
XM_011529076.1:c.1482C>G (GDF5)	XP_011527378.1:p.Val494=
NM_001319138.1:c.1482C>G (GDF5)	NP_001306067.1:p.Val494=
NM_001355428.1:c.-226G>C (GDF5-AS1)	NP_001342357.1:n.-226G>C
NM_000557.5:c.1482C>G (GDF5) MANE Select	NP_000548.2:p.Val494=
NM_001319138.2:c.1482C>G (GDF5)	NP_001306067.1:p.Val494=
NR_161326.1:n.217G>C (GDF5-AS1)