Canonical Allele Identifier: CA134544910
Gene: BMP6 HGNC NCBI

Linked Data

dbSNP Id: rs9505298
gnomAD v2: 6-7881449-G-A
gnomAD v3: 6-7881216-G-A
gnomAD v4: 6-7881216-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7881216G>A , CM000668.2:g.7881216G>A GRCh38
NC_000006.11:g.7881449G>A , CM000668.1:g.7881449G>A GRCh37
NC_000006.10:g.7826448G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000283147.7:c.*873G>A MANE Select ENSP00000283147.6:n.*873G>A
ENST00000283147.6:c.*873G>A ENSP00000283147.6:n.*873G>A
NM_001718.4:c.*873G>A NP_001709.1:n.*873G>A
NM_001718.5:c.*873G>A NP_001709.1:n.*873G>A
NM_001718.6:c.*873G>A MANE Select NP_001709.1:n.*873G>A