Canonical Allele Identifier: CA289244899
Gene: BLMH HGNC NCBI

Linked Data

dbSNP Id: rs558853710
gnomAD v2: 17-28575901-T-C
gnomAD v3: 17-30248883-T-C
gnomAD v4: 17-30248883-T-C
MyVariant Identifiers: chr17:g.28575901T>C (hg19) chr17:g.30248883T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30248883T>C , CM000679.2:g.30248883T>C GRCh38
NC_000017.10:g.28575901T>C , CM000679.1:g.28575901T>C GRCh37
NC_000017.9:g.25600027T>C NCBI36
NG_011440.1:g.48174A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261714.11:c.*134A>G MANE Select ENSP00000261714.6:n.*134A>G
ENST00000261714.10:c.*134A>G ENSP00000261714.6:n.*134A>G
ENST00000578090.5:c.*1176A>G ENSP00000462353.1:n.*1176A>G
ENST00000578795.1:n.1401A>G
NM_000386.3:c.*134A>G NP_000377.1:n.*134A>G
XR_934653.1:n.701-904T>C
XR_934655.1:n.701-3191T>C
NM_000386.4:c.*134A>G MANE Select NP_000377.1:n.*134A>G
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