Canonical Allele Identifier: CA134544870
Gene: BMP6 HGNC NCBI

Linked Data

dbSNP Id: rs909855481
gnomAD v3: 6-7880993-T-C
gnomAD v4: 6-7880993-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7880993T>C , CM000668.2:g.7880993T>C GRCh38
NC_000006.11:g.7881226T>C , CM000668.1:g.7881226T>C GRCh37
NC_000006.10:g.7826225T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000283147.7:c.*650T>C MANE Select ENSP00000283147.6:n.*650T>C
ENST00000283147.6:c.*650T>C ENSP00000283147.6:n.*650T>C
NM_001718.4:c.*650T>C NP_001709.1:n.*650T>C
NM_001718.5:c.*650T>C NP_001709.1:n.*650T>C
NM_001718.6:c.*650T>C MANE Select NP_001709.1:n.*650T>C