Canonical Allele Identifier: CA210821

Gene: GDF6

Linked Data

• ClinVar Variation Id: 60534
• ClinVar RCV Id: RCV000054426 ; RCV001337031 ; RCV001753472 ; RCV001853075
• dbSNP Id: rs397514725
• ExAC: 8:97172752 C / G
• gnomAD v2: 8-97172752-C-G
• gnomAD v3: 8-96160524-C-G
• gnomAD v4: 8-96160524-C-G
• MyVariant Identifiers: chr8:g.97172752C>G (hg19) ; chr8:g.96160524C>G (hg38)
• PubMed: PMID:23307924

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96160524C>G , CM000670.2:g.96160524C>G	GRCh38
NC_000008.10:g.97172752C>G , CM000670.1:g.97172752C>G	GRCh37
NC_000008.9:g.97241928C>G	NCBI36
NG_008981.1:g.5269G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287020.7:c.169G>C MANE Select	ENSP00000287020.4:p.Asp57His
ENST00000287020.6:c.169G>C	ENSP00000287020.4:p.Asp57His
ENST00000620978.1:c.169G>C	ENSP00000480170.1:p.Asp57His
ENST00000621429.1:c.169G>C	ENSP00000483711.1:p.Asp57His
NM_001001557.2:c.169G>C	NP_001001557.1:p.Asp57His
NM_001001557.3:c.169G>C	NP_001001557.1:p.Asp57His
NM_001001557.4:c.169G>C MANE Select	NP_001001557.1:p.Asp57His