Canonical Allele Identifier: CA15467469
Gene: BMP6 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.7877186A>C
GRCh37 chr6:g.7877419A>C
gnomAD v2:
6:7877419 A / C
gnomAD v3:
6:7877186 A / C
gnomAD v4:
chr6-7877186-A-C
Joint Max Group AF 0.80622327 (AFR)
Genomes Max Group AF 0.80622327 (AFR)
dbSNP:
1225934
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7877186A>C , CM000668.2:g.7877186A>C GRCh38
NC_000006.11:g.7877419A>C , CM000668.1:g.7877419A>C GRCh37
NC_000006.10:g.7822418A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000283147.7:c.1205-1888A>C MANE Select ENSP00000283147.6:n.1205-1888A>C
ENST00000283147.6:c.1205-1888A>C ENSP00000283147.6:n.1205-1888A>C
NM_001718.4:c.1205-1888A>C NP_001709.1:n.1205-1888A>C
NM_001718.5:c.1205-1888A>C NP_001709.1:n.1205-1888A>C
NM_001718.6:c.1205-1888A>C MANE Select NP_001709.1:n.1205-1888A>C
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