Canonical Allele Identifier: CA845990713
Gene: BLK HGNC NCBI

Linked Data

dbSNP Id: rs1459662796
gnomAD v3: 8-11564119-C-T
gnomAD v4: 8-11564119-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.11564119C>T , CM000670.2:g.11564119C>T GRCh38
NC_000008.10:g.11421628C>T , CM000670.1:g.11421628C>T GRCh37
NC_000008.9:g.11459037C>T NCBI36
NG_023543.1:g.75108C>T
NG_023543.2:g.75108C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696154.2:n.1637C>T
ENST00000696154.1:c.*847C>T ENSP00000512445.1:n.*847C>T
ENST00000696155.1:n.413C>T
ENST00000259089.9:c.*11C>T MANE Select ENSP00000259089.4:n.*11C>T
ENST00000645242.1:c.*11C>T ENSP00000494690.1:n.*11C>T
ENST00000259089.8:c.*11C>T ENSP00000259089.4:n.*11C>T
ENST00000526097.1:n.1469C>T
ENST00000529894.1:c.*11C>T ENSP00000433663.1:n.*11C>T
NM_001715.2:c.*11C>T NP_001706.2:n.*11C>T
XM_011543824.1:c.*11C>T XP_011542126.1:n.*11C>T
XM_011543825.1:c.*11C>T XP_011542127.1:n.*11C>T
XM_011543826.1:c.*11C>T XP_011542128.1:n.*11C>T
XM_011543827.1:c.*11C>T XP_011542129.1:n.*11C>T
NM_001330465.1:c.*11C>T NP_001317394.1:n.*11C>T
XM_011543825.3:c.*11C>T XP_011542127.1:n.*11C>T
NM_001715.3:c.*11C>T MANE Select NP_001706.2:n.*11C>T
NM_001330465.2:c.*11C>T NP_001317394.1:n.*11C>T