Canonical Allele Identifier: CA625432861
Gene: BLMH HGNC NCBI

Linked Data

dbSNP Id: rs1174039784
gnomAD v2: 17-28575931-G-A
gnomAD v3: 17-30248913-G-A
gnomAD v4: 17-30248913-G-A
MyVariant Identifiers: chr17:g.28575931G>A (hg19) chr17:g.30248913G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30248913G>A , CM000679.2:g.30248913G>A GRCh38
NC_000017.10:g.28575931G>A , CM000679.1:g.28575931G>A GRCh37
NC_000017.9:g.25600057G>A NCBI36
NG_011440.1:g.48144C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261714.11:c.*104C>T MANE Select ENSP00000261714.6:n.*104C>T
ENST00000261714.10:c.*104C>T ENSP00000261714.6:n.*104C>T
ENST00000578090.5:c.*1146C>T ENSP00000462353.1:n.*1146C>T
ENST00000578795.1:n.1371C>T
NM_000386.3:c.*104C>T NP_000377.1:n.*104C>T
XR_934653.1:n.701-874G>A
XR_934655.1:n.701-3161G>A
NM_000386.4:c.*104C>T MANE Select NP_000377.1:n.*104C>T
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Search 100 bp 3'