Canonical Allele Identifier: CA398932050
Gene: BLMH HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.28576037A>T (hg19) chr17:g.30249019A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30249019A>T , CM000679.2:g.30249019A>T GRCh38
NC_000017.10:g.28576037A>T , CM000679.1:g.28576037A>T GRCh37
NC_000017.9:g.25600163A>T NCBI36
NG_011440.1:g.48038T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261714.11:c.1366T>A MANE Select ENSP00000261714.6:p.Ter456Arg
ENST00000261714.10:c.1366T>A ENSP00000261714.6:p.Ter456Arg
ENST00000578090.5:c.*1040T>A ENSP00000462353.1:n.*1040T>A
ENST00000578795.1:n.1265T>A
NM_000386.3:c.1366T>A NP_000377.1:p.Ter456Arg
XR_934653.1:n.701-768A>T
XR_934655.1:n.701-3055A>T
NM_000386.4:c.1366T>A MANE Select NP_000377.1:p.Ter456Arg
Search 100 bp 5'
Search 100 bp 3'