Canonical Allele Identifier: CA9832105

Gene: GDF5 GDF5-AS1

Linked Data

• dbSNP Id: rs767358661
• ExAC: 20:34021686 G / A
• gnomAD v2: 20-34021686-G-A
• gnomAD v3: 20-35433888-G-A
• gnomAD v4: 20-35433888-G-A
• COSMIC: COSN5028275
• MyVariant Identifiers: chr20:g.34021686G>A (hg19) ; chr20:g.35433888G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35433888G>A , CM000682.2:g.35433888G>A	GRCh38
NC_000020.10:g.34021686G>A , CM000682.1:g.34021686G>A	GRCh37
NC_000020.9:g.33485100G>A	NCBI36
NG_008076.2:g.9332C>T
NG_008076.3:g.25859C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374369.8:c.*21C>T (GDF5) MANE Select	ENSP00000363489.3:n.*21C>T
ENST00000374369.7:c.*21C>T (GDF5)	ENSP00000363489.3:n.*21C>T
ENST00000374372.1:c.*21C>T (GDF5)	ENSP00000363492.1:n.*21C>T
ENST00000374375.1:c.-271G>A (GDF5-AS1)	ENSP00000363495.1:n.-271G>A
NM_000557.4:c.*21C>T (GDF5)	NP_000548.2:n.*21C>T
XM_011529075.1:c.*21C>T (GDF5)	XP_011527377.1:n.*21C>T
XM_011529076.1:c.*21C>T (GDF5)	XP_011527378.1:n.*21C>T
NM_001319138.1:c.*21C>T (GDF5)	NP_001306067.1:n.*21C>T
NM_001355428.1:c.-271G>A (GDF5-AS1)	NP_001342357.1:n.-271G>A
NM_000557.5:c.*21C>T (GDF5) MANE Select	NP_000548.2:n.*21C>T
NM_001319138.2:c.*21C>T (GDF5)	NP_001306067.1:n.*21C>T
NR_161326.1:n.172G>A (GDF5-AS1)