Canonical Allele Identifier: CA10653095
Community Standard Title: NM_000557.5(GDF5):c.*335A>C
Gene: GDF5 HGNC NCBI
GDF5-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.35433574T>G , CM000682.2:g.35433574T>G GRCh38
NC_000020.10:g.34021372T>G , CM000682.1:g.34021372T>G GRCh37
NC_000020.9:g.33484786T>G NCBI36
NG_008076.2:g.9646A>C
NG_008076.3:g.26173A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000557.5:c.*335A>C (GDF5) MANE Select NP_000548.2:n.*335A>C
ENST00000374369.8:c.*335A>C (GDF5) MANE Select ENSP00000363489.3:n.*335A>C
NM_000557.4:c.*335A>C (GDF5) NP_000548.2:n.*335A>C
NM_001319138.1:c.*335A>C (GDF5) NP_001306067.1:n.*335A>C
NM_001319138.2:c.*335A>C (GDF5) NP_001306067.1:n.*335A>C
NM_001355428.1:c.-307-278T>G (GDF5-AS1) NP_001342357.1:n.-307-278T>G
NR_161326.1:n.136-278T>G (GDF5-AS1)
ENST00000374369.7:c.*335A>C (GDF5) ENSP00000363489.3:n.*335A>C
ENST00000374372.1:c.*335A>C (GDF5) ENSP00000363492.1:n.*335A>C
ENST00000374375.1:c.-307-278T>G (GDF5-AS1) ENSP00000363495.1:n.-307-278T>G
XM_011529075.1:c.*335A>C (GDF5) XP_011527377.1:n.*335A>C
XM_011529076.1:c.*335A>C (GDF5) XP_011527378.1:n.*335A>C