Canonical Allele Identifier: CA134544874
Gene: BMP6 HGNC NCBI

Linked Data

dbSNP Id: rs763881236
gnomAD v2: 6-7881237-C-A
gnomAD v3: 6-7881004-C-A
gnomAD v4: 6-7881004-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7881004C>A , CM000668.2:g.7881004C>A GRCh38
NC_000006.11:g.7881237C>A , CM000668.1:g.7881237C>A GRCh37
NC_000006.10:g.7826236C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000283147.7:c.*661C>A MANE Select ENSP00000283147.6:n.*661C>A
ENST00000283147.6:c.*661C>A ENSP00000283147.6:n.*661C>A
NM_001718.4:c.*661C>A NP_001709.1:n.*661C>A
NM_001718.5:c.*661C>A NP_001709.1:n.*661C>A
NM_001718.6:c.*661C>A MANE Select NP_001709.1:n.*661C>A