Canonical Allele Identifier: CA625432867
Gene: BLMH HGNC NCBI

Linked Data

dbSNP Id: rs1328731439
gnomAD v2: 17-28576027-G-A
gnomAD v3: 17-30249009-G-A
gnomAD v4: 17-30249009-G-A
MyVariant Identifiers: chr17:g.28576027G>A (hg19) chr17:g.30249009G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30249009G>A , CM000679.2:g.30249009G>A GRCh38
NC_000017.10:g.28576027G>A , CM000679.1:g.28576027G>A GRCh37
NC_000017.9:g.25600153G>A NCBI36
NG_011440.1:g.48048C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261714.11:c.*8C>T MANE Select ENSP00000261714.6:n.*8C>T
ENST00000261714.10:c.*8C>T ENSP00000261714.6:n.*8C>T
ENST00000578090.5:c.*1050C>T ENSP00000462353.1:n.*1050C>T
ENST00000578795.1:n.1275C>T
NM_000386.3:c.*8C>T NP_000377.1:n.*8C>T
XR_934653.1:n.701-778G>A
XR_934655.1:n.701-3065G>A
NM_000386.4:c.*8C>T MANE Select NP_000377.1:n.*8C>T
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