Canonical Allele Identifier: CA2637004730
Gene: BLMH HGNC NCBI

Linked Data

gnomAD v4: 17-30248922-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30248922C>A , CM000679.2:g.30248922C>A GRCh38
NC_000017.10:g.28575940C>A , CM000679.1:g.28575940C>A GRCh37
NC_000017.9:g.25600066C>A NCBI36
NG_011440.1:g.48135G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261714.11:c.*95G>T MANE Select ENSP00000261714.6:n.*95G>T
ENST00000261714.10:c.*95G>T ENSP00000261714.6:n.*95G>T
ENST00000578090.5:c.*1137G>T ENSP00000462353.1:n.*1137G>T
ENST00000578795.1:n.1362G>T
NM_000386.3:c.*95G>T NP_000377.1:n.*95G>T
XR_934653.1:n.701-865C>A
XR_934655.1:n.701-3152C>A
NM_000386.4:c.*95G>T MANE Select NP_000377.1:n.*95G>T
Search 100 bp 5'
Search 100 bp 3'