Canonical Allele Identifier: CA656566581
Gene: BLMH HGNC NCBI

Linked Data

COSMIC: COSN26508667
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30249007G>T , CM000679.2:g.30249007G>T GRCh38
NC_000017.10:g.28576025G>T , CM000679.1:g.28576025G>T GRCh37
NC_000017.9:g.25600151G>T NCBI36
NG_011440.1:g.48050C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261714.11:c.*10C>A MANE Select ENSP00000261714.6:n.*10C>A
ENST00000261714.10:c.*10C>A ENSP00000261714.6:n.*10C>A
ENST00000578090.5:c.*1052C>A ENSP00000462353.1:n.*1052C>A
ENST00000578795.1:n.1277C>A
NM_000386.3:c.*10C>A NP_000377.1:n.*10C>A
XR_934653.1:n.701-780G>T
XR_934655.1:n.701-3067G>T
NM_000386.4:c.*10C>A MANE Select NP_000377.1:n.*10C>A
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