Canonical Allele Identifier: CA727906375
Gene: BLMH HGNC NCBI

Linked Data

dbSNP Id: rs1174875997
gnomAD v3: 17-30248905-T-C
gnomAD v4: 17-30248905-T-C
MyVariant Identifiers: chr17:g.28575923T>C (hg19) chr17:g.30248905T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30248905T>C , CM000679.2:g.30248905T>C GRCh38
NC_000017.10:g.28575923T>C , CM000679.1:g.28575923T>C GRCh37
NC_000017.9:g.25600049T>C NCBI36
NG_011440.1:g.48152A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261714.11:c.*112A>G MANE Select ENSP00000261714.6:n.*112A>G
ENST00000261714.10:c.*112A>G ENSP00000261714.6:n.*112A>G
ENST00000578090.5:c.*1154A>G ENSP00000462353.1:n.*1154A>G
ENST00000578795.1:n.1379A>G
NM_000386.3:c.*112A>G NP_000377.1:n.*112A>G
XR_934653.1:n.701-882T>C
XR_934655.1:n.701-3169T>C
NM_000386.4:c.*112A>G MANE Select NP_000377.1:n.*112A>G
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