Canonical Allele Identifier: CA398932272
Gene: BLMH HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.28576091C>A (hg19) chr17:g.30249073C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30249073C>A , CM000679.2:g.30249073C>A GRCh38
NC_000017.10:g.28576091C>A , CM000679.1:g.28576091C>A GRCh37
NC_000017.9:g.25600217C>A NCBI36
NG_011440.1:g.47984G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261714.11:c.1312G>T MANE Select ENSP00000261714.6:p.Glu438Ter
ENST00000261714.10:c.1312G>T ENSP00000261714.6:p.Glu438Ter
ENST00000578090.5:c.*986G>T ENSP00000462353.1:n.*986G>T
ENST00000578795.1:n.1211G>T
NM_000386.3:c.1312G>T NP_000377.1:p.Glu438Ter
XR_934653.1:n.701-714C>A
XR_934655.1:n.701-3001C>A
NM_000386.4:c.1312G>T MANE Select NP_000377.1:p.Glu438Ter
Search 100 bp 5'
Search 100 bp 3'