Canonical Allele Identifier: CA1085722296
Gene: BMP6 HGNC NCBI

Linked Data

dbSNP Id: rs1759713020
gnomAD v3: 6-7881011-C-T
gnomAD v4: 6-7881011-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7881011C>T , CM000668.2:g.7881011C>T GRCh38
NC_000006.11:g.7881244C>T , CM000668.1:g.7881244C>T GRCh37
NC_000006.10:g.7826243C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000283147.7:c.*668C>T MANE Select ENSP00000283147.6:n.*668C>T
ENST00000283147.6:c.*668C>T ENSP00000283147.6:n.*668C>T
NM_001718.4:c.*668C>T NP_001709.1:n.*668C>T
NM_001718.5:c.*668C>T NP_001709.1:n.*668C>T
NM_001718.6:c.*668C>T MANE Select NP_001709.1:n.*668C>T
Search 100 bp 5'
Search 100 bp 3'