Canonical Allele Identifier: CA9832369
Gene: GDF5 HGNC NCBI

Linked Data

ClinVar Variation Id: 338322
dbSNP Id: rs151149144

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.35437580C>A , CM000682.2:g.35437580C>A GRCh38
NC_000020.10:g.34025360C>A , CM000682.1:g.34025360C>A GRCh37
NC_000020.9:g.33488774C>A NCBI36
NG_008076.2:g.5640G>T
NG_008076.3:g.22167G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000374369.8:c.349G>T MANE Select ENSP00000363489.3:p.Ala117Ser
ENST00000374369.7:c.349G>T ENSP00000363489.3:p.Ala117Ser
ENST00000374372.1:c.349G>T ENSP00000363492.1:p.Ala117Ser
NM_000557.4:c.349G>T NP_000548.2:p.Ala117Ser
XM_011529075.1:c.349G>T XP_011527377.1:p.Ala117Ser
XM_011529076.1:c.349G>T XP_011527378.1:p.Ala117Ser
NM_001319138.1:c.349G>T NP_001306067.1:p.Ala117Ser
NM_000557.5:c.349G>T MANE Select NP_000548.2:p.Ala117Ser
NM_001319138.2:c.349G>T NP_001306067.1:p.Ala117Ser