Canonical Allele Identifier: CA287052
Gene: BLM HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.90747403T>C
GRCh37 chr15:g.91290633T>C
Revel Score:
ENST00000355112 (MANE Select) 0.122
gnomAD v2:
15:91290633 T / C
gnomAD v3:
15:90747403 T / C
gnomAD v4:
chr15-90747403-T-C
Joint Max Group AF 0.00193639 (NFE)
Genomes Max Group AF 0.00175257 (NFE)
Exomes Max Group AF 0.00193254 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90747403T>C , CM000677.2:g.90747403T>C GRCh38
NC_000015.9:g.91290633T>C , CM000677.1:g.91290633T>C GRCh37
NC_000015.8:g.89091637T>C NCBI36
NG_007272.1:g.35032T>C , LRG_20:g.35032T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355112.8:c.11T>C MANE Select ENSP00000347232.3:p.Val4Ala
ENST00000648453.1:c.11T>C ENSP00000497646.1:p.Val4Ala
ENST00000680772.1:c.11T>C ENSP00000506117.1:p.Val4Ala
ENST00000681142.1:c.11T>C ENSP00000506682.1:p.Val4Ala
ENST00000355112.7:c.11T>C ENSP00000347232.3:p.Val4Ala
ENST00000559282.1:n.14T>C
ENST00000559724.5:c.11T>C ENSP00000453359.1:p.Val4Ala
ENST00000560509.5:c.11T>C ENSP00000454158.1:p.Val4Ala
NM_000057.3:c.11T>C NP_000048.1:p.Val4Ala
NM_001287246.1:c.11T>C NP_001274175.1:p.Val4Ala
NM_001287247.1:c.11T>C NP_001274176.1:p.Val4Ala
NM_001287248.1:c.-1281T>C NP_001274177.1:n.-1281T>C
XM_011521882.1:c.11T>C XP_011520184.1:p.Val4Ala
XM_011521882.3:c.11T>C XP_011520184.1:p.Val4Ala
NM_000057.4:c.11T>C MANE Select NP_000048.1:p.Val4Ala
NM_001287246.2:c.11T>C NP_001274175.1:p.Val4Ala
NM_001287247.2:c.11T>C NP_001274176.1:p.Val4Ala
NM_001287248.2:c.-1281T>C NP_001274177.1:n.-1281T>C
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