Canonical Allele Identifier: CA462454831
Gene: GDF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 2128961
ClinVar RCV Id: RCV003040301
MyVariant Identifiers: chr8:g.97172555C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96160327C>T , CM000670.2:g.96160327C>T GRCh38
NC_000008.10:g.97172555C>T , CM000670.1:g.97172555C>T GRCh37
NC_000008.9:g.97241731C>T NCBI36
NG_008981.1:g.5466G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.366G>A MANE Select ENSP00000287020.4:p.Lys122=
ENST00000287020.6:c.366G>A ENSP00000287020.4:p.Lys122=
ENST00000620978.1:c.366G>A ENSP00000480170.1:p.Lys122=
ENST00000621429.1:c.366G>A ENSP00000483711.1:p.Lys122=
NM_001001557.2:c.366G>A NP_001001557.1:p.Lys122=
NM_001001557.3:c.366G>A NP_001001557.1:p.Lys122=
NM_001001557.4:c.366G>A MANE Select NP_001001557.1:p.Lys122=
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