Canonical Allele Identifier: CA828402152
Gene: BMP6 HGNC NCBI

Linked Data

dbSNP Id: rs1249961359
gnomAD v3: 6-7849290-G-T
gnomAD v4: 6-7849290-G-T
MyVariant Identifiers: chr6:g.7849523G>T (hg19) chr6:g.7849290G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7849290G>T , CM000668.2:g.7849290G>T GRCh38
NC_000006.11:g.7849523G>T , CM000668.1:g.7849523G>T GRCh37
NC_000006.10:g.7794522G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000283147.7:c.857+3958G>T MANE Select ENSP00000283147.6:n.857+3958G>T
ENST00000283147.6:c.857+3958G>T ENSP00000283147.6:n.857+3958G>T
NM_001718.4:c.857+3958G>T NP_001709.1:n.857+3958G>T
NM_001718.5:c.857+3958G>T NP_001709.1:n.857+3958G>T
NM_001718.6:c.857+3958G>T MANE Select NP_001709.1:n.857+3958G>T
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