Canonical Allele Identifier: CA2637004731
Gene: BLMH HGNC NCBI

Linked Data

gnomAD v4: 17-30248924-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30248924C>T , CM000679.2:g.30248924C>T GRCh38
NC_000017.10:g.28575942C>T , CM000679.1:g.28575942C>T GRCh37
NC_000017.9:g.25600068C>T NCBI36
NG_011440.1:g.48133G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261714.11:c.*93G>A MANE Select ENSP00000261714.6:n.*93G>A
ENST00000261714.10:c.*93G>A ENSP00000261714.6:n.*93G>A
ENST00000578090.5:c.*1135G>A ENSP00000462353.1:n.*1135G>A
ENST00000578795.1:n.1360G>A
NM_000386.3:c.*93G>A NP_000377.1:n.*93G>A
XR_934653.1:n.701-863C>T
XR_934655.1:n.701-3150C>T
NM_000386.4:c.*93G>A MANE Select NP_000377.1:n.*93G>A
Search 100 bp 5'
Search 100 bp 3'