Canonical Allele Identifier: CA2591568189
Gene: BMP6 HGNC NCBI

Linked Data

dbSNP Id: rs1581275921
gnomAD v3: 6-7849122-C-T
gnomAD v4: 6-7849122-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7849122C>T , CM000668.2:g.7849122C>T GRCh38
NC_000006.11:g.7849355C>T , CM000668.1:g.7849355C>T GRCh37
NC_000006.10:g.7794354C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000283147.7:c.857+3790C>T MANE Select ENSP00000283147.6:n.857+3790C>T
ENST00000283147.6:c.857+3790C>T ENSP00000283147.6:n.857+3790C>T
NM_001718.4:c.857+3790C>T NP_001709.1:n.857+3790C>T
NM_001718.5:c.857+3790C>T NP_001709.1:n.857+3790C>T
NM_001718.6:c.857+3790C>T MANE Select NP_001709.1:n.857+3790C>T