Canonical Allele Identifier: CA2576219885
Gene: BLMH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30248917C>T , CM000679.2:g.30248917C>T GRCh38
NC_000017.10:g.28575935C>T , CM000679.1:g.28575935C>T GRCh37
NC_000017.9:g.25600061C>T NCBI36
NG_011440.1:g.48140G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261714.11:c.*100G>A MANE Select ENSP00000261714.6:n.*100G>A
ENST00000261714.10:c.*100G>A ENSP00000261714.6:n.*100G>A
ENST00000578090.5:c.*1142G>A ENSP00000462353.1:n.*1142G>A
ENST00000578795.1:n.1367G>A
NM_000386.3:c.*100G>A NP_000377.1:n.*100G>A
XR_934653.1:n.701-870C>T
XR_934655.1:n.701-3157C>T
NM_000386.4:c.*100G>A MANE Select NP_000377.1:n.*100G>A
Search 100 bp 5'
Search 100 bp 3'