Canonical Allele Identifier: CA10643805
Gene: GDF5 HGNC NCBI

Linked Data

ClinVar Variation Id: 338327
dbSNP Id: rs886056643

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.35438148G>A , CM000682.2:g.35438148G>A GRCh38
NC_000020.10:g.34025928G>A , CM000682.1:g.34025928G>A GRCh37
NC_000020.9:g.33489342G>A NCBI36
NG_008076.2:g.5072C>T
NG_008076.3:g.21599C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000374369.8:c.-220C>T MANE Select ENSP00000363489.3:n.-220C>T
ENST00000374369.7:c.-220C>T ENSP00000363489.3:n.-220C>T
ENST00000374372.1:c.-220C>T ENSP00000363492.1:n.-220C>T
NM_000557.4:c.-220C>T NP_000548.2:n.-220C>T
XM_011529075.1:c.-220C>T XP_011527377.1:n.-220C>T
XM_011529076.1:c.-220C>T XP_011527378.1:n.-220C>T
NM_001319138.1:c.-220C>T NP_001306067.1:n.-220C>T
NM_000557.5:c.-220C>T MANE Select NP_000548.2:n.-220C>T
NM_001319138.2:c.-220C>T NP_001306067.1:n.-220C>T