Canonical Allele Identifier: CA8480567
Gene: BLMH HGNC NCBI

Linked Data

dbSNP Id: rs766236646
ExAC: 17:28576033 T / G
gnomAD v2: 17-28576033-T-G
gnomAD v3: 17-30249015-T-G
gnomAD v4: 17-30249015-T-G
MyVariant Identifiers: chr17:g.28576033T>G (hg19) chr17:g.30249015T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30249015T>G , CM000679.2:g.30249015T>G GRCh38
NC_000017.10:g.28576033T>G , CM000679.1:g.28576033T>G GRCh37
NC_000017.9:g.25600159T>G NCBI36
NG_011440.1:g.48042A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261714.11:c.*2A>C MANE Select ENSP00000261714.6:n.*2A>C
ENST00000261714.10:c.*2A>C ENSP00000261714.6:n.*2A>C
ENST00000578090.5:c.*1044A>C ENSP00000462353.1:n.*1044A>C
ENST00000578795.1:n.1269A>C
NM_000386.3:c.*2A>C NP_000377.1:n.*2A>C
XR_934653.1:n.701-772T>G
XR_934655.1:n.701-3059T>G
NM_000386.4:c.*2A>C MANE Select NP_000377.1:n.*2A>C
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