Canonical Allele Identifier: CA2677219667
Gene: BMP6 HGNC NCBI

Linked Data

dbSNP Id: rs2113301488
gnomAD v4: 6-7881028-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7881028C>T , CM000668.2:g.7881028C>T GRCh38
NC_000006.11:g.7881261C>T , CM000668.1:g.7881261C>T GRCh37
NC_000006.10:g.7826260C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000283147.7:c.*685C>T MANE Select ENSP00000283147.6:n.*685C>T
ENST00000283147.6:c.*685C>T ENSP00000283147.6:n.*685C>T
NM_001718.4:c.*685C>T NP_001709.1:n.*685C>T
NM_001718.5:c.*685C>T NP_001709.1:n.*685C>T
NM_001718.6:c.*685C>T MANE Select NP_001709.1:n.*685C>T