Canonical Allele Identifier: CA635722148

Gene: GDF5

Linked Data

• dbSNP Id: rs1303060679
• gnomAD v2: 20-34025760-G-T
• gnomAD v4: 20-35437980-G-T
• MyVariant Identifiers: chr20:g.34025760G>T (hg19) ; chr20:g.35437980G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35437980G>T , CM000682.2:g.35437980G>T	GRCh38
NC_000020.10:g.34025760G>T , CM000682.1:g.34025760G>T	GRCh37
NC_000020.9:g.33489174G>T	NCBI36
NG_008076.2:g.5240C>A
NG_008076.3:g.21767C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374369.8:c.-52C>A MANE Select	ENSP00000363489.3:n.-52C>A
ENST00000374369.7:c.-52C>A	ENSP00000363489.3:n.-52C>A
ENST00000374372.1:c.-52C>A	ENSP00000363492.1:n.-52C>A
NM_000557.4:c.-52C>A	NP_000548.2:n.-52C>A
XM_011529075.1:c.-52C>A	XP_011527377.1:n.-52C>A
XM_011529076.1:c.-52C>A	XP_011527378.1:n.-52C>A
NM_001319138.1:c.-52C>A	NP_001306067.1:n.-52C>A
NM_000557.5:c.-52C>A MANE Select	NP_000548.2:n.-52C>A
NM_001319138.2:c.-52C>A	NP_001306067.1:n.-52C>A