Canonical Allele Identifier: CA12287885
Gene: BMP6 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.7849102T>A
GRCh37 chr6:g.7849335T>A
gnomAD v2:
6:7849335 T / A
gnomAD v3:
6:7849102 T / A
gnomAD v4:
chr6-7849102-T-A
Joint Max Group AF 0.69743819 (EAS)
Genomes Max Group AF 0.69743819 (EAS)
dbSNP:
267196
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7849102T>A , CM000668.2:g.7849102T>A GRCh38
NC_000006.11:g.7849335T>A , CM000668.1:g.7849335T>A GRCh37
NC_000006.10:g.7794334T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000283147.7:c.857+3770T>A MANE Select ENSP00000283147.6:n.857+3770T>A
ENST00000283147.6:c.857+3770T>A ENSP00000283147.6:n.857+3770T>A
NM_001718.4:c.857+3770T>A NP_001709.1:n.857+3770T>A
NM_001718.5:c.857+3770T>A NP_001709.1:n.857+3770T>A
NM_001718.6:c.857+3770T>A MANE Select NP_001709.1:n.857+3770T>A
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