Canonical Allele Identifier: CA181488443
Gene: GDF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1416800
ClinVar RCV Id: RCV001947979
dbSNP Id: rs966679733
gnomAD v2: 8-97172520-C-T
gnomAD v3: 8-96160292-C-T
gnomAD v4: 8-96160292-C-T
MyVariant Identifiers: chr8:g.97172520C>T (hg19) chr8:g.96160292C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96160292C>T , CM000670.2:g.96160292C>T GRCh38
NC_000008.10:g.97172520C>T , CM000670.1:g.97172520C>T GRCh37
NC_000008.9:g.97241696C>T NCBI36
NG_008981.1:g.5501G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.401G>A MANE Select ENSP00000287020.4:p.Gly134Glu
ENST00000287020.6:c.401G>A ENSP00000287020.4:p.Gly134Glu
ENST00000620978.1:c.401G>A ENSP00000480170.1:p.Gly134Glu
ENST00000621429.1:c.401G>A ENSP00000483711.1:p.Gly134Glu
NM_001001557.2:c.401G>A NP_001001557.1:p.Gly134Glu
NM_001001557.3:c.401G>A NP_001001557.1:p.Gly134Glu
NM_001001557.4:c.401G>A MANE Select NP_001001557.1:p.Gly134Glu
Search 100 bp 5'
Search 100 bp 3'