Canonical Allele Identifier: CA10631831
Gene: GDF6 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.96144275A>T
GRCh37 chr8:g.97156503A>T
gnomAD v2:
8:97156503 A / T
gnomAD v3:
8:96144275 A / T
gnomAD v4:
chr8-96144275-A-T
Joint Max Group AF 0.00018881 (NFE)
Genomes Max Group AF 0.00015885 (NFE)
Exomes Max Group AF 0.00017783 (NFE)
ClinVar RCV:
RCV000396971
ClinVar Variation:
364028
dbSNP:
886063201
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96144275A>T , CM000670.2:g.96144275A>T GRCh38
NC_000008.10:g.97156503A>T , CM000670.1:g.97156503A>T GRCh37
NC_000008.9:g.97225679A>T NCBI36
NG_008981.1:g.21518T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.*288T>A MANE Select ENSP00000287020.4:n.*288T>A
ENST00000287020.6:c.*288T>A ENSP00000287020.4:n.*288T>A
NM_001001557.2:c.*288T>A NP_001001557.1:n.*288T>A
XM_011517030.1:c.*288T>A XP_011515332.1:n.*288T>A
NM_001001557.3:c.*288T>A NP_001001557.1:n.*288T>A
NM_001001557.4:c.*288T>A MANE Select NP_001001557.1:n.*288T>A
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