Canonical Allele Identifier: CA134540991

Gene: BMP6

Linked Data

• dbSNP Id: rs192744630
• gnomAD v3: 6-7849296-C-A
• gnomAD v4: 6-7849296-C-A
• MyVariant Identifiers: chr6:g.7849529C>A (hg19) ; chr6:g.7849296C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7849296C>A , CM000668.2:g.7849296C>A	GRCh38
NC_000006.11:g.7849529C>A , CM000668.1:g.7849529C>A	GRCh37
NC_000006.10:g.7794528C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283147.7:c.857+3964C>A MANE Select	ENSP00000283147.6:n.857+3964C>A
ENST00000283147.6:c.857+3964C>A	ENSP00000283147.6:n.857+3964C>A
NM_001718.4:c.857+3964C>A	NP_001709.1:n.857+3964C>A
NM_001718.5:c.857+3964C>A	NP_001709.1:n.857+3964C>A
NM_001718.6:c.857+3964C>A MANE Select	NP_001709.1:n.857+3964C>A