Canonical Allele Identifier: CA241364

Gene: GDF5 GDF5-AS1

Linked Data

• ClinVar Variation Id: 195094
• ClinVar RCV Id: RCV000175634
• dbSNP Id: rs794727254
• MyVariant Identifiers: chr20:g.34021879T>C (hg19) ; chr20:g.35434081T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35434081T>C , CM000682.2:g.35434081T>C	GRCh38
NC_000020.10:g.34021879T>C , CM000682.1:g.34021879T>C	GRCh37
NC_000020.9:g.33485293T>C	NCBI36
NG_008076.2:g.9139A>G
NG_008076.3:g.25666A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374369.8:c.1334A>G (GDF5) MANE Select	ENSP00000363489.3:p.Asn445Ser
ENST00000374369.7:c.1334A>G (GDF5)	ENSP00000363489.3:p.Asn445Ser
ENST00000374372.1:c.1334A>G (GDF5)	ENSP00000363492.1:p.Asn445Ser
ENST00000374375.1:c.-78T>C (GDF5-AS1)	ENSP00000363495.1:n.-78T>C
NM_000557.4:c.1334A>G (GDF5)	NP_000548.2:p.Asn445Ser
XM_011529075.1:c.1334A>G (GDF5)	XP_011527377.1:p.Asn445Ser
XM_011529076.1:c.1334A>G (GDF5)	XP_011527378.1:p.Asn445Ser
NM_001319138.1:c.1334A>G (GDF5)	NP_001306067.1:p.Asn445Ser
NM_001355428.1:c.-78T>C (GDF5-AS1)	NP_001342357.1:n.-78T>C
NM_000557.5:c.1334A>G (GDF5) MANE Select	NP_000548.2:p.Asn445Ser
NM_001319138.2:c.1334A>G (GDF5)	NP_001306067.1:p.Asn445Ser
NR_161326.1:n.365T>C (GDF5-AS1)