Canonical Allele Identifier: CA828413637

Gene: BMP6

Linked Data

• dbSNP Id: rs1317452971
• gnomAD v3: 6-7881017-T-G
• gnomAD v4: 6-7881017-T-G
• MyVariant Identifiers: chr6:g.7881250T>G (hg19) ; chr6:g.7881017T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7881017T>G , CM000668.2:g.7881017T>G	GRCh38
NC_000006.11:g.7881250T>G , CM000668.1:g.7881250T>G	GRCh37
NC_000006.10:g.7826249T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283147.7:c.*674T>G MANE Select	ENSP00000283147.6:n.*674T>G
ENST00000283147.6:c.*674T>G	ENSP00000283147.6:n.*674T>G
NM_001718.4:c.*674T>G	NP_001709.1:n.*674T>G
NM_001718.5:c.*674T>G	NP_001709.1:n.*674T>G
NM_001718.6:c.*674T>G MANE Select	NP_001709.1:n.*674T>G