Canonical Allele Identifier: CA289245076
Gene: BLMH HGNC NCBI

Linked Data

dbSNP Id: rs931439401
MyVariant Identifiers: chr17:g.28576034A>T (hg19) chr17:g.30249016A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30249016A>T , CM000679.2:g.30249016A>T GRCh38
NC_000017.10:g.28576034A>T , CM000679.1:g.28576034A>T GRCh37
NC_000017.9:g.25600160A>T NCBI36
NG_011440.1:g.48041T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261714.11:c.*1T>A MANE Select ENSP00000261714.6:n.*1T>A
ENST00000261714.10:c.*1T>A ENSP00000261714.6:n.*1T>A
ENST00000578090.5:c.*1043T>A ENSP00000462353.1:n.*1043T>A
ENST00000578795.1:n.1268T>A
NM_000386.3:c.*1T>A NP_000377.1:n.*1T>A
XR_934653.1:n.701-771A>T
XR_934655.1:n.701-3058A>T
NM_000386.4:c.*1T>A MANE Select NP_000377.1:n.*1T>A
Search 100 bp 5'
Search 100 bp 3'