Canonical Allele Identifier: CA122129
Gene: BLK HGNC NCBI
COSMIC:
COSM20486
MyVariant.info:
GRCh38 chr8:g.11548067G>A
GRCh37 chr8:g.11405576G>A
Revel Score:
ENST00000259089 (MANE Select) 0.160
ENST00000427279 0.160
gnomAD v2:
8:11405576 G / A
gnomAD v3:
8:11548067 G / A
gnomAD v4:
chr8-11548067-G-A
Joint Max Group AF 0.04433654 (MID)
Genomes Max Group AF 0.02216555 (AFR)
Exomes Max Group AF 0.04461938 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.11548067G>A , CM000670.2:g.11548067G>A GRCh38
NC_000008.10:g.11405576G>A , CM000670.1:g.11405576G>A GRCh37
NC_000008.9:g.11442985G>A NCBI36
NG_023543.1:g.59056G>A
NG_023543.2:g.59056G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696154.2:n.362G>A
ENST00000696154.1:c.-3G>A ENSP00000512445.1:n.-3G>A
ENST00000259089.9:c.211G>A MANE Select ENSP00000259089.4:p.Ala71Thr
ENST00000645242.1:c.-3G>A ENSP00000494690.1:n.-3G>A
ENST00000259089.8:c.211G>A ENSP00000259089.4:p.Ala71Thr
ENST00000529894.1:c.-3G>A ENSP00000433663.1:n.-3G>A
ENST00000533828.1:n.409G>A
NM_001715.2:c.211G>A NP_001706.2:p.Ala71Thr
XM_011543824.1:c.211G>A XP_011542126.1:p.Ala71Thr
XM_011543825.1:c.211G>A XP_011542127.1:p.Ala71Thr
XM_011543826.1:c.211G>A XP_011542128.1:p.Ala71Thr
XM_011543827.1:c.-3G>A XP_011542129.1:n.-3G>A
XM_011543828.1:c.211G>A XP_011542130.1:p.Ala71Thr
XM_011543829.1:c.211G>A XP_011542131.1:p.Ala71Thr
NM_001330465.1:c.-3G>A NP_001317394.1:n.-3G>A
XM_011543825.3:c.211G>A XP_011542127.1:p.Ala71Thr
XM_011543828.3:c.211G>A XP_011542130.1:p.Ala71Thr
XM_011543829.3:c.211G>A XP_011542131.1:p.Ala71Thr
NM_001715.3:c.211G>A MANE Select NP_001706.2:p.Ala71Thr
NM_001330465.2:c.-3G>A NP_001317394.1:n.-3G>A
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