Canonical Allele Identifier: CA289244909
Gene: BLMH HGNC NCBI

Linked Data

dbSNP Id: rs184629086
gnomAD v3: 17-30248890-G-A
gnomAD v4: 17-30248890-G-A
MyVariant Identifiers: chr17:g.28575908G>A (hg19) chr17:g.30248890G>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000261714.11:c.*127C>T MANE Select ENSP00000261714.6:n.*127C>T
ENST00000261714.10:c.*127C>T ENSP00000261714.6:n.*127C>T
ENST00000578090.5:c.*1169C>T ENSP00000462353.1:n.*1169C>T
ENST00000578795.1:n.1394C>T
NM_000386.3:c.*127C>T NP_000377.1:n.*127C>T
XR_934653.1:n.701-897G>A
XR_934655.1:n.701-3184G>A
NM_000386.4:c.*127C>T MANE Select NP_000377.1:n.*127C>T
Search 100 bp 5'
Search 100 bp 3'