Canonical Allele Identifier: CA2637004702
Gene: BLMH HGNC NCBI

Linked Data

gnomAD v4: 17-30248890-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30248890G>C , CM000679.2:g.30248890G>C GRCh38
NC_000017.10:g.28575908G>C , CM000679.1:g.28575908G>C GRCh37
NC_000017.9:g.25600034G>C NCBI36
NG_011440.1:g.48167C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261714.11:c.*127C>G MANE Select ENSP00000261714.6:n.*127C>G
ENST00000261714.10:c.*127C>G ENSP00000261714.6:n.*127C>G
ENST00000578090.5:c.*1169C>G ENSP00000462353.1:n.*1169C>G
ENST00000578795.1:n.1394C>G
NM_000386.3:c.*127C>G NP_000377.1:n.*127C>G
XR_934653.1:n.701-897G>C
XR_934655.1:n.701-3184G>C
NM_000386.4:c.*127C>G MANE Select NP_000377.1:n.*127C>G
Search 100 bp 5'
Search 100 bp 3'