Canonical Allele Identifier: CA2637004726
Gene: BLMH HGNC NCBI

Linked Data

gnomAD v4: 17-30248917-C-A
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Genomic Alleles

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

Transcript Alleles

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