Canonical Allele Identifier: CA2637004711
Gene: BLMH HGNC NCBI

Linked Data

gnomAD v4: 17-30248902-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30248902G>T , CM000679.2:g.30248902G>T GRCh38
NC_000017.10:g.28575920G>T , CM000679.1:g.28575920G>T GRCh37
NC_000017.9:g.25600046G>T NCBI36
NG_011440.1:g.48155C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261714.11:c.*115C>A MANE Select ENSP00000261714.6:n.*115C>A
ENST00000261714.10:c.*115C>A ENSP00000261714.6:n.*115C>A
ENST00000578090.5:c.*1157C>A ENSP00000462353.1:n.*1157C>A
ENST00000578795.1:n.1382C>A
NM_000386.3:c.*115C>A NP_000377.1:n.*115C>A
XR_934653.1:n.701-885G>T
XR_934655.1:n.701-3172G>T
NM_000386.4:c.*115C>A MANE Select NP_000377.1:n.*115C>A
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