Canonical Allele Identifier: CA408738252

Gene: GDF5 GDF5-AS1

Linked Data

• dbSNP Id: rs1224691513
• gnomAD v3: 20-35434056-C-T
• gnomAD v4: 20-35434056-C-T
• COSMIC: COSM4525849
• MyVariant Identifiers: chr20:g.34021854C>T (hg19) ; chr20:g.35434056C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35434056C>T , CM000682.2:g.35434056C>T	GRCh38
NC_000020.10:g.34021854C>T , CM000682.1:g.34021854C>T	GRCh37
NC_000020.9:g.33485268C>T	NCBI36
NG_008076.2:g.9164G>A
NG_008076.3:g.25691G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374369.8:c.1359G>A (GDF5) MANE Select	ENSP00000363489.3:p.Met453Ile
ENST00000374369.7:c.1359G>A (GDF5)	ENSP00000363489.3:p.Met453Ile
ENST00000374372.1:c.1359G>A (GDF5)	ENSP00000363492.1:p.Met453Ile
ENST00000374375.1:c.-103C>T (GDF5-AS1)	ENSP00000363495.1:n.-103C>T
NM_000557.4:c.1359G>A (GDF5)	NP_000548.2:p.Met453Ile
XM_011529075.1:c.1359G>A (GDF5)	XP_011527377.1:p.Met453Ile
XM_011529076.1:c.1359G>A (GDF5)	XP_011527378.1:p.Met453Ile
NM_001319138.1:c.1359G>A (GDF5)	NP_001306067.1:p.Met453Ile
NM_001355428.1:c.-103C>T (GDF5-AS1)	NP_001342357.1:n.-103C>T
NM_000557.5:c.1359G>A (GDF5) MANE Select	NP_000548.2:p.Met453Ile
NM_001319138.2:c.1359G>A (GDF5)	NP_001306067.1:p.Met453Ile
NR_161326.1:n.340C>T (GDF5-AS1)