Canonical Allele Identifier: CA134540974
Gene: BMP6 HGNC NCBI

Linked Data

dbSNP Id: rs1052551026
gnomAD v2: 6-7849368-C-T
gnomAD v3: 6-7849135-C-T
gnomAD v4: 6-7849135-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7849135C>T , CM000668.2:g.7849135C>T GRCh38
NC_000006.11:g.7849368C>T , CM000668.1:g.7849368C>T GRCh37
NC_000006.10:g.7794367C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000283147.7:c.857+3803C>T MANE Select ENSP00000283147.6:n.857+3803C>T
ENST00000283147.6:c.857+3803C>T ENSP00000283147.6:n.857+3803C>T
NM_001718.4:c.857+3803C>T NP_001709.1:n.857+3803C>T
NM_001718.5:c.857+3803C>T NP_001709.1:n.857+3803C>T
NM_001718.6:c.857+3803C>T MANE Select NP_001709.1:n.857+3803C>T