Canonical Allele Identifier: CA635351892

Gene: GDF5 GDF5-AS1

Linked Data

• dbSNP Id: rs1444151505
• gnomAD v2: 20-34021667-C-G
• gnomAD v4: 20-35433869-C-G
• MyVariant Identifiers: chr20:g.34021667C>G (hg19) ; chr20:g.35433869C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35433869C>G , CM000682.2:g.35433869C>G	GRCh38
NC_000020.10:g.34021667C>G , CM000682.1:g.34021667C>G	GRCh37
NC_000020.9:g.33485081C>G	NCBI36
NG_008076.2:g.9351G>C
NG_008076.3:g.25878G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374369.8:c.*40G>C (GDF5) MANE Select	ENSP00000363489.3:n.*40G>C
ENST00000374369.7:c.*40G>C (GDF5)	ENSP00000363489.3:n.*40G>C
ENST00000374372.1:c.*40G>C (GDF5)	ENSP00000363492.1:n.*40G>C
ENST00000374375.1:c.-290C>G (GDF5-AS1)	ENSP00000363495.1:n.-290C>G
NM_000557.4:c.*40G>C (GDF5)	NP_000548.2:n.*40G>C
XM_011529075.1:c.*40G>C (GDF5)	XP_011527377.1:n.*40G>C
XM_011529076.1:c.*40G>C (GDF5)	XP_011527378.1:n.*40G>C
NM_001319138.1:c.*40G>C (GDF5)	NP_001306067.1:n.*40G>C
NM_001355428.1:c.-290C>G (GDF5-AS1)	NP_001342357.1:n.-290C>G
NM_000557.5:c.*40G>C (GDF5) MANE Select	NP_000548.2:n.*40G>C
NM_001319138.2:c.*40G>C (GDF5)	NP_001306067.1:n.*40G>C
NR_161326.1:n.153C>G (GDF5-AS1)