Canonical Allele Identifier: CA727906373
Gene: BLMH HGNC NCBI

Linked Data

dbSNP Id: rs1408674220
MyVariant Identifiers: chr17:g.28575922C>A (hg19) chr17:g.30248904C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30248904C>A , CM000679.2:g.30248904C>A GRCh38
NC_000017.10:g.28575922C>A , CM000679.1:g.28575922C>A GRCh37
NC_000017.9:g.25600048C>A NCBI36
NG_011440.1:g.48153G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261714.11:c.*113G>T MANE Select ENSP00000261714.6:n.*113G>T
ENST00000261714.10:c.*113G>T ENSP00000261714.6:n.*113G>T
ENST00000578090.5:c.*1155G>T ENSP00000462353.1:n.*1155G>T
ENST00000578795.1:n.1380G>T
NM_000386.3:c.*113G>T NP_000377.1:n.*113G>T
XR_934653.1:n.701-883C>A
XR_934655.1:n.701-3170C>A
NM_000386.4:c.*113G>T MANE Select NP_000377.1:n.*113G>T
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