Canonical Allele Identifier: CA2637004690
Gene: BLMH HGNC NCBI

Linked Data

gnomAD v4: 17-30248875-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30248875G>T , CM000679.2:g.30248875G>T GRCh38
NC_000017.10:g.28575893G>T , CM000679.1:g.28575893G>T GRCh37
NC_000017.9:g.25600019G>T NCBI36
NG_011440.1:g.48182C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261714.11:c.*142C>A MANE Select ENSP00000261714.6:n.*142C>A
ENST00000261714.10:c.*142C>A ENSP00000261714.6:n.*142C>A
ENST00000578090.5:c.*1184C>A ENSP00000462353.1:n.*1184C>A
ENST00000578795.1:n.1409C>A
NM_000386.3:c.*142C>A NP_000377.1:n.*142C>A
XR_934653.1:n.701-912G>T
XR_934655.1:n.701-3199G>T
NM_000386.4:c.*142C>A MANE Select NP_000377.1:n.*142C>A
Search 100 bp 5'
Search 100 bp 3'