Canonical Allele Identifier: CA2637004689
Gene: BLMH HGNC NCBI

Linked Data

gnomAD v4: 17-30248874-A-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30248874A>T , CM000679.2:g.30248874A>T GRCh38
NC_000017.10:g.28575892A>T , CM000679.1:g.28575892A>T GRCh37
NC_000017.9:g.25600018A>T NCBI36
NG_011440.1:g.48183T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261714.11:c.*143T>A MANE Select ENSP00000261714.6:n.*143T>A
ENST00000261714.10:c.*143T>A ENSP00000261714.6:n.*143T>A
ENST00000578090.5:c.*1185T>A ENSP00000462353.1:n.*1185T>A
ENST00000578795.1:n.1410T>A
NM_000386.3:c.*143T>A NP_000377.1:n.*143T>A
XR_934653.1:n.701-913A>T
XR_934655.1:n.701-3200A>T
NM_000386.4:c.*143T>A MANE Select NP_000377.1:n.*143T>A
Search 100 bp 5'
Search 100 bp 3'