Canonical Allele Identifier: CA2637004706
Gene: BLMH HGNC NCBI

Linked Data

gnomAD v4: 17-30248895-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30248895G>T , CM000679.2:g.30248895G>T GRCh38
NC_000017.10:g.28575913G>T , CM000679.1:g.28575913G>T GRCh37
NC_000017.9:g.25600039G>T NCBI36
NG_011440.1:g.48162C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261714.11:c.*122C>A MANE Select ENSP00000261714.6:n.*122C>A
ENST00000261714.10:c.*122C>A ENSP00000261714.6:n.*122C>A
ENST00000578090.5:c.*1164C>A ENSP00000462353.1:n.*1164C>A
ENST00000578795.1:n.1389C>A
NM_000386.3:c.*122C>A NP_000377.1:n.*122C>A
XR_934653.1:n.701-892G>T
XR_934655.1:n.701-3179G>T
NM_000386.4:c.*122C>A MANE Select NP_000377.1:n.*122C>A
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