Canonical Allele Identifier: CA459308562
Gene: BLK HGNC NCBI

Linked Data

dbSNP Id: rs1263152728
gnomAD v3: 8-11548117-C-T
gnomAD v4: 8-11548117-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.11548117C>T , CM000670.2:g.11548117C>T GRCh38
NC_000008.10:g.11405626C>T , CM000670.1:g.11405626C>T GRCh37
NC_000008.9:g.11443035C>T NCBI36
NG_023543.1:g.59106C>T
NG_023543.2:g.59106C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696154.2:n.412C>T
ENST00000696154.1:c.48C>T ENSP00000512445.1:p.Val16=
ENST00000259089.9:c.261C>T MANE Select ENSP00000259089.4:p.Val87=
ENST00000645242.1:c.48C>T ENSP00000494690.1:p.Val16=
ENST00000259089.8:c.261C>T ENSP00000259089.4:p.Val87=
ENST00000529894.1:c.48C>T ENSP00000433663.1:p.Val16=
ENST00000533828.1:n.459C>T
NM_001715.2:c.261C>T NP_001706.2:p.Val87=
XM_011543824.1:c.261C>T XP_011542126.1:p.Val87=
XM_011543825.1:c.261C>T XP_011542127.1:p.Val87=
XM_011543826.1:c.261C>T XP_011542128.1:p.Val87=
XM_011543827.1:c.48C>T XP_011542129.1:p.Val16=
XM_011543828.1:c.261C>T XP_011542130.1:p.Val87=
XM_011543829.1:c.261C>T XP_011542131.1:p.Val87=
NM_001330465.1:c.48C>T NP_001317394.1:p.Val16=
XM_011543825.3:c.261C>T XP_011542127.1:p.Val87=
XM_011543828.3:c.261C>T XP_011542130.1:p.Val87=
XM_011543829.3:c.261C>T XP_011542131.1:p.Val87=
NM_001715.3:c.261C>T MANE Select NP_001706.2:p.Val87=
NM_001330465.2:c.48C>T NP_001317394.1:p.Val16=