Canonical Allele Identifier: CA828402147
Gene: BMP6 HGNC NCBI

Linked Data

dbSNP Id: rs1417286724
gnomAD v3: 6-7849258-T-C
gnomAD v4: 6-7849258-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7849258T>C , CM000668.2:g.7849258T>C GRCh38
NC_000006.11:g.7849491T>C , CM000668.1:g.7849491T>C GRCh37
NC_000006.10:g.7794490T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000283147.7:c.857+3926T>C MANE Select ENSP00000283147.6:n.857+3926T>C
ENST00000283147.6:c.857+3926T>C ENSP00000283147.6:n.857+3926T>C
NM_001718.4:c.857+3926T>C NP_001709.1:n.857+3926T>C
NM_001718.5:c.857+3926T>C NP_001709.1:n.857+3926T>C
NM_001718.6:c.857+3926T>C MANE Select NP_001709.1:n.857+3926T>C