Canonical Allele Identifier: CA134540953
Gene: BMP6 HGNC NCBI

Linked Data

dbSNP Id: rs900799445
gnomAD v2: 6-7849236-C-T
gnomAD v3: 6-7849003-C-T
gnomAD v4: 6-7849003-C-T
MyVariant Identifiers: chr6:g.7849236C>T (hg19) chr6:g.7849003C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7849003C>T , CM000668.2:g.7849003C>T GRCh38
NC_000006.11:g.7849236C>T , CM000668.1:g.7849236C>T GRCh37
NC_000006.10:g.7794235C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000283147.7:c.857+3671C>T MANE Select ENSP00000283147.6:n.857+3671C>T
ENST00000283147.6:c.857+3671C>T ENSP00000283147.6:n.857+3671C>T
NM_001718.4:c.857+3671C>T NP_001709.1:n.857+3671C>T
NM_001718.5:c.857+3671C>T NP_001709.1:n.857+3671C>T
NM_001718.6:c.857+3671C>T MANE Select NP_001709.1:n.857+3671C>T
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