Canonical Allele Identifier: CA134541004
Gene: BMP6 HGNC NCBI

Linked Data

dbSNP Id: rs981947121
gnomAD v2: 6-7849665-G-T
gnomAD v3: 6-7849432-G-T
gnomAD v4: 6-7849432-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7849432G>T , CM000668.2:g.7849432G>T GRCh38
NC_000006.11:g.7849665G>T , CM000668.1:g.7849665G>T GRCh37
NC_000006.10:g.7794664G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000283147.7:c.857+4100G>T MANE Select ENSP00000283147.6:n.857+4100G>T
ENST00000283147.6:c.857+4100G>T ENSP00000283147.6:n.857+4100G>T
NM_001718.4:c.857+4100G>T NP_001709.1:n.857+4100G>T
NM_001718.5:c.857+4100G>T NP_001709.1:n.857+4100G>T
NM_001718.6:c.857+4100G>T MANE Select NP_001709.1:n.857+4100G>T