Canonical Allele Identifier: CA371753701
Gene: GDF6 HGNC NCBI

Linked Data

dbSNP Id: rs1423852021
gnomAD v3: 8-96160473-C-G
gnomAD v4: 8-96160473-C-G
MyVariant Identifiers: chr8:g.97172701C>G (hg19) chr8:g.96160473C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96160473C>G , CM000670.2:g.96160473C>G GRCh38
NC_000008.10:g.97172701C>G , CM000670.1:g.97172701C>G GRCh37
NC_000008.9:g.97241877C>G NCBI36
NG_008981.1:g.5320G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.220G>C MANE Select ENSP00000287020.4:p.Glu74Gln
ENST00000287020.6:c.220G>C ENSP00000287020.4:p.Glu74Gln
ENST00000620978.1:c.220G>C ENSP00000480170.1:p.Glu74Gln
ENST00000621429.1:c.220G>C ENSP00000483711.1:p.Glu74Gln
NM_001001557.2:c.220G>C NP_001001557.1:p.Glu74Gln
NM_001001557.3:c.220G>C NP_001001557.1:p.Glu74Gln
NM_001001557.4:c.220G>C MANE Select NP_001001557.1:p.Glu74Gln
Search 100 bp 5'
Search 100 bp 3'