Canonical Allele Identifier: CA408739331

Gene: GDF5 GDF5-AS1

Linked Data

• dbSNP Id: rs1320654037
• gnomAD v2: 20-34022021-C-A
• gnomAD v4: 20-35434223-C-A
• MyVariant Identifiers: chr20:g.34022021C>A (hg19) ; chr20:g.35434223C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35434223C>A , CM000682.2:g.35434223C>A	GRCh38
NC_000020.10:g.34022021C>A , CM000682.1:g.34022021C>A	GRCh37
NC_000020.9:g.33485435C>A	NCBI36
NG_008076.2:g.8997G>T
NG_008076.3:g.25524G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374369.8:c.1192G>T (GDF5) MANE Select	ENSP00000363489.3:p.Ala398Ser
ENST00000374369.7:c.1192G>T (GDF5)	ENSP00000363489.3:p.Ala398Ser
ENST00000374372.1:c.1192G>T (GDF5)	ENSP00000363492.1:p.Ala398Ser
ENST00000374375.1:c.65C>A (GDF5-AS1)	ENSP00000363495.1:p.Ala22Asp
NM_000557.4:c.1192G>T (GDF5)	NP_000548.2:p.Ala398Ser
XM_011529075.1:c.1192G>T (GDF5)	XP_011527377.1:p.Ala398Ser
XM_011529076.1:c.1192G>T (GDF5)	XP_011527378.1:p.Ala398Ser
NM_001319138.1:c.1192G>T (GDF5)	NP_001306067.1:p.Ala398Ser
NM_001355428.1:c.65C>A (GDF5-AS1)	NP_001342357.1:p.Ala22Asp
NM_000557.5:c.1192G>T (GDF5) MANE Select	NP_000548.2:p.Ala398Ser
NM_001319138.2:c.1192G>T (GDF5)	NP_001306067.1:p.Ala398Ser
NR_161326.1:n.507C>A (GDF5-AS1)