Canonical Allele Identifier: CA2637004721
Gene: BLMH HGNC NCBI

Linked Data

gnomAD v4: 17-30248913-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30248913G>C , CM000679.2:g.30248913G>C GRCh38
NC_000017.10:g.28575931G>C , CM000679.1:g.28575931G>C GRCh37
NC_000017.9:g.25600057G>C NCBI36
NG_011440.1:g.48144C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261714.11:c.*104C>G MANE Select ENSP00000261714.6:n.*104C>G
ENST00000261714.10:c.*104C>G ENSP00000261714.6:n.*104C>G
ENST00000578090.5:c.*1146C>G ENSP00000462353.1:n.*1146C>G
ENST00000578795.1:n.1371C>G
NM_000386.3:c.*104C>G NP_000377.1:n.*104C>G
XR_934653.1:n.701-874G>C
XR_934655.1:n.701-3161G>C
NM_000386.4:c.*104C>G MANE Select NP_000377.1:n.*104C>G
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