Canonical Allele Identifier: CA134540989
Gene: BMP6 HGNC NCBI

Linked Data

dbSNP Id: rs540950054
gnomAD v2: 6-7849501-G-C
gnomAD v3: 6-7849268-G-C
gnomAD v4: 6-7849268-G-C
MyVariant Identifiers: chr6:g.7849501G>C (hg19) chr6:g.7849268G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7849268G>C , CM000668.2:g.7849268G>C GRCh38
NC_000006.11:g.7849501G>C , CM000668.1:g.7849501G>C GRCh37
NC_000006.10:g.7794500G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000283147.7:c.857+3936G>C MANE Select ENSP00000283147.6:n.857+3936G>C
ENST00000283147.6:c.857+3936G>C ENSP00000283147.6:n.857+3936G>C
NM_001718.4:c.857+3936G>C NP_001709.1:n.857+3936G>C
NM_001718.5:c.857+3936G>C NP_001709.1:n.857+3936G>C
NM_001718.6:c.857+3936G>C MANE Select NP_001709.1:n.857+3936G>C
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