Canonical Allele Identifier: CA2652618024
Gene: GDF5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.35438178A>G , CM000682.2:g.35438178A>G GRCh38
NC_000020.10:g.34025958A>G , CM000682.1:g.34025958A>G GRCh37
NC_000020.9:g.33489372A>G NCBI36
NG_008076.2:g.5042T>C
NG_008076.3:g.21569T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000374369.8:c.-250T>C MANE Select ENSP00000363489.3:n.-250T>C
ENST00000374369.7:c.-250T>C ENSP00000363489.3:n.-250T>C
ENST00000374372.1:c.-241-9T>C ENSP00000363492.1:n.-241-9T>C
NM_000557.4:c.-250T>C NP_000548.2:n.-250T>C
XM_011529075.1:c.-241-9T>C XP_011527377.1:n.-241-9T>C
XM_011529076.1:c.-241-9T>C XP_011527378.1:n.-241-9T>C
NM_001319138.1:c.-241-9T>C NP_001306067.1:n.-241-9T>C
NM_000557.5:c.-250T>C MANE Select NP_000548.2:n.-250T>C
NM_001319138.2:c.-241-9T>C NP_001306067.1:n.-241-9T>C