Canonical Allele Identifier: CA134540988
Gene: BMP6 HGNC NCBI

Linked Data

dbSNP Id: rs1005434225
gnomAD v3: 6-7849264-C-G
gnomAD v4: 6-7849264-C-G
MyVariant Identifiers: chr6:g.7849497C>G (hg19) chr6:g.7849264C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7849264C>G , CM000668.2:g.7849264C>G GRCh38
NC_000006.11:g.7849497C>G , CM000668.1:g.7849497C>G GRCh37
NC_000006.10:g.7794496C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000283147.7:c.857+3932C>G MANE Select ENSP00000283147.6:n.857+3932C>G
ENST00000283147.6:c.857+3932C>G ENSP00000283147.6:n.857+3932C>G
NM_001718.4:c.857+3932C>G NP_001709.1:n.857+3932C>G
NM_001718.5:c.857+3932C>G NP_001709.1:n.857+3932C>G
NM_001718.6:c.857+3932C>G MANE Select NP_001709.1:n.857+3932C>G
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