Canonical Allele Identifier: CA371751629
Gene: GDF6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.97157290A>C (hg19) chr8:g.96145062A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96145062A>C , CM000670.2:g.96145062A>C GRCh38
NC_000008.10:g.97157290A>C , CM000670.1:g.97157290A>C GRCh37
NC_000008.9:g.97226466A>C NCBI36
NG_008981.1:g.20731T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.869T>G MANE Select ENSP00000287020.4:p.Phe290Cys
ENST00000287020.6:c.869T>G ENSP00000287020.4:p.Phe290Cys
ENST00000620978.1:c.793+14T>G ENSP00000480170.1:n.793+14T>G
ENST00000621429.1:c.869T>G ENSP00000483711.1:p.Phe290Cys
NM_001001557.2:c.869T>G NP_001001557.1:p.Phe290Cys
XM_011517030.1:c.470T>G XP_011515332.1:p.Phe157Cys
NM_001001557.3:c.869T>G NP_001001557.1:p.Phe290Cys
NM_001001557.4:c.869T>G MANE Select NP_001001557.1:p.Phe290Cys
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