Canonical Allele Identifier: CA371753505
Gene: GDF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1501509
ClinVar RCV Id: RCV002017524
dbSNP Id: rs751465124
MyVariant Identifiers: chr8:g.97172605A>T (hg19) chr8:g.96160377A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96160377A>T , CM000670.2:g.96160377A>T GRCh38
NC_000008.10:g.97172605A>T , CM000670.1:g.97172605A>T GRCh37
NC_000008.9:g.97241781A>T NCBI36
NG_008981.1:g.5416T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.316T>A MANE Select ENSP00000287020.4:p.Ser106Thr
ENST00000287020.6:c.316T>A ENSP00000287020.4:p.Ser106Thr
ENST00000620978.1:c.316T>A ENSP00000480170.1:p.Ser106Thr
ENST00000621429.1:c.316T>A ENSP00000483711.1:p.Ser106Thr
NM_001001557.2:c.316T>A NP_001001557.1:p.Ser106Thr
NM_001001557.3:c.316T>A NP_001001557.1:p.Ser106Thr
NM_001001557.4:c.316T>A MANE Select NP_001001557.1:p.Ser106Thr
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