Canonical Allele Identifier: CA134541001
Gene: BMP6 HGNC NCBI

Linked Data

dbSNP Id: rs770901096
gnomAD v3: 6-7849391-G-A
gnomAD v4: 6-7849391-G-A
MyVariant Identifiers: chr6:g.7849624G>A (hg19) chr6:g.7849391G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7849391G>A , CM000668.2:g.7849391G>A GRCh38
NC_000006.11:g.7849624G>A , CM000668.1:g.7849624G>A GRCh37
NC_000006.10:g.7794623G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000283147.7:c.857+4059G>A MANE Select ENSP00000283147.6:n.857+4059G>A
ENST00000283147.6:c.857+4059G>A ENSP00000283147.6:n.857+4059G>A
NM_001718.4:c.857+4059G>A NP_001709.1:n.857+4059G>A
NM_001718.5:c.857+4059G>A NP_001709.1:n.857+4059G>A
NM_001718.6:c.857+4059G>A MANE Select NP_001709.1:n.857+4059G>A
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