Canonical Allele Identifier: CA2677219660
Gene: BMP6 HGNC NCBI

Linked Data

gnomAD v4: 6-7880995-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7880995T>C , CM000668.2:g.7880995T>C GRCh38
NC_000006.11:g.7881228T>C , CM000668.1:g.7881228T>C GRCh37
NC_000006.10:g.7826227T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000283147.7:c.*652T>C MANE Select ENSP00000283147.6:n.*652T>C
ENST00000283147.6:c.*652T>C ENSP00000283147.6:n.*652T>C
NM_001718.4:c.*652T>C NP_001709.1:n.*652T>C
NM_001718.5:c.*652T>C NP_001709.1:n.*652T>C
NM_001718.6:c.*652T>C MANE Select NP_001709.1:n.*652T>C