Canonical Allele Identifier: CA129364

Gene: GDF3

Linked Data

• ClinVar Variation Id: 30592
• ClinVar RCV Id: RCV000023557 ; RCV001516658 ; RCV002247386
• dbSNP Id: rs387906945
• ExAC: 12:7842655 A / G
• gnomAD v2: 12-7842655-A-G
• gnomAD v3: 12-7690059-A-G
• gnomAD v4: 12-7690059-A-G
• MyVariant Identifiers: chr12:g.7842655A>G (hg19) ; chr12:g.7690059A>G (hg38)
• PubMed: PMID:19864492

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7690059A>G , CM000674.2:g.7690059A>G	GRCh38
NC_000012.11:g.7842655A>G , CM000674.1:g.7842655A>G	GRCh37
NC_000012.10:g.7733922A>G	NCBI36
NG_028167.1:g.10706T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329913.4:c.914T>C MANE Select	ENSP00000331745.3:p.Leu305Pro
ENST00000329913.3:c.914T>C	ENSP00000331745.3:p.Leu305Pro
NM_020634.1:c.914T>C	NP_065685.1:p.Leu305Pro
NM_020634.2:c.914T>C	NP_065685.1:p.Leu305Pro
NM_020634.3:c.914T>C MANE Select	NP_065685.1:p.Leu305Pro