Canonical Allele Identifier: CA2637004697
Gene: BLMH HGNC NCBI

Linked Data

gnomAD v4: 17-30248881-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30248881C>G , CM000679.2:g.30248881C>G GRCh38
NC_000017.10:g.28575899C>G , CM000679.1:g.28575899C>G GRCh37
NC_000017.9:g.25600025C>G NCBI36
NG_011440.1:g.48176G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261714.11:c.*136G>C MANE Select ENSP00000261714.6:n.*136G>C
ENST00000261714.10:c.*136G>C ENSP00000261714.6:n.*136G>C
ENST00000578090.5:c.*1178G>C ENSP00000462353.1:n.*1178G>C
ENST00000578795.1:n.1403G>C
NM_000386.3:c.*136G>C NP_000377.1:n.*136G>C
XR_934653.1:n.701-906C>G
XR_934655.1:n.701-3193C>G
NM_000386.4:c.*136G>C MANE Select NP_000377.1:n.*136G>C
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