Canonical Allele Identifier: CA462454785
Gene: GDF6 HGNC NCBI

Linked Data

dbSNP Id: rs1477772856
gnomAD v2: 8-97172765-C-T
gnomAD v4: 8-96160537-C-T
MyVariant Identifiers: chr8:g.97172765C>T (hg19) chr8:g.96160537C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96160537C>T , CM000670.2:g.96160537C>T GRCh38
NC_000008.10:g.97172765C>T , CM000670.1:g.97172765C>T GRCh37
NC_000008.9:g.97241941C>T NCBI36
NG_008981.1:g.5256G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.156G>A MANE Select ENSP00000287020.4:p.Gln52=
ENST00000287020.6:c.156G>A ENSP00000287020.4:p.Gln52=
ENST00000620978.1:c.156G>A ENSP00000480170.1:p.Gln52=
ENST00000621429.1:c.156G>A ENSP00000483711.1:p.Gln52=
NM_001001557.2:c.156G>A NP_001001557.1:p.Gln52=
NM_001001557.3:c.156G>A NP_001001557.1:p.Gln52=
NM_001001557.4:c.156G>A MANE Select NP_001001557.1:p.Gln52=
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