Canonical Allele Identifier: CA172066961
Gene: BLK HGNC NCBI

Linked Data

dbSNP Id: rs914510524
gnomAD v3: 8-11491348-T-A
gnomAD v4: 8-11491348-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.11491348T>A , CM000670.2:g.11491348T>A GRCh38
NC_000008.10:g.11348857T>A , CM000670.1:g.11348857T>A GRCh37
NC_000008.9:g.11386266T>A NCBI36
NG_023543.1:g.2337T>A
NG_023543.2:g.2337T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696154.2:n.274+4181T>A
ENST00000696154.1:c.-91+4181T>A ENSP00000512445.1:n.-91+4181T>A
ENST00000645242.1:c.-91+4181T>A ENSP00000494690.1:n.-91+4181T>A