Canonical Allele Identifier: CA10643804

Gene: GDF5

Linked Data

• ClinVar Variation Id: 338326
• ClinVar RCV Id: RCV000263658 ; RCV000274183 ; RCV000312894 ; RCV000356104 ; RCV000371093 ; RCV001566963
• dbSNP Id: rs73094730
• gnomAD v2: 20-34025843-C-T
• gnomAD v3: 20-35438063-C-T
• gnomAD v4: 20-35438063-C-T
• MyVariant Identifiers: chr20:g.34025843C>T (hg19) ; chr20:g.35438063C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35438063C>T , CM000682.2:g.35438063C>T	GRCh38
NC_000020.10:g.34025843C>T , CM000682.1:g.34025843C>T	GRCh37
NC_000020.9:g.33489257C>T	NCBI36
NG_008076.2:g.5157G>A
NG_008076.3:g.21684G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374369.8:c.-135G>A MANE Select	ENSP00000363489.3:n.-135G>A
ENST00000374369.7:c.-135G>A	ENSP00000363489.3:n.-135G>A
ENST00000374372.1:c.-135G>A	ENSP00000363492.1:n.-135G>A
NM_000557.4:c.-135G>A	NP_000548.2:n.-135G>A
XM_011529075.1:c.-135G>A	XP_011527377.1:n.-135G>A
XM_011529076.1:c.-135G>A	XP_011527378.1:n.-135G>A
NM_001319138.1:c.-135G>A	NP_001306067.1:n.-135G>A
NM_000557.5:c.-135G>A MANE Select	NP_000548.2:n.-135G>A
NM_001319138.2:c.-135G>A	NP_001306067.1:n.-135G>A