Canonical Allele Identifier: CA371751630
Gene: GDF6 HGNC NCBI

Linked Data

gnomAD v4: 8-96145062-A-G
MyVariant Identifiers: chr8:g.97157290A>G (hg19) chr8:g.96145062A>G (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.869T>C MANE Select ENSP00000287020.4:p.Phe290Ser
ENST00000287020.6:c.869T>C ENSP00000287020.4:p.Phe290Ser
ENST00000620978.1:c.793+14T>C ENSP00000480170.1:n.793+14T>C
ENST00000621429.1:c.869T>C ENSP00000483711.1:p.Phe290Ser
NM_001001557.2:c.869T>C NP_001001557.1:p.Phe290Ser
XM_011517030.1:c.470T>C XP_011515332.1:p.Phe157Ser
NM_001001557.3:c.869T>C NP_001001557.1:p.Phe290Ser
NM_001001557.4:c.869T>C MANE Select NP_001001557.1:p.Phe290Ser
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