Canonical Allele Identifier: CA370316916
Gene: BLK HGNC NCBI

Linked Data

gnomAD v4: 8-11564029-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.11564029G>T , CM000670.2:g.11564029G>T GRCh38
NC_000008.10:g.11421538G>T , CM000670.1:g.11421538G>T GRCh37
NC_000008.9:g.11458947G>T NCBI36
NG_023543.1:g.75018G>T
NG_023543.2:g.75018G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696154.2:n.1547G>T
ENST00000696154.1:c.*757G>T ENSP00000512445.1:n.*757G>T
ENST00000696155.1:n.323G>T
ENST00000259089.9:c.1439G>T MANE Select ENSP00000259089.4:p.Arg480Leu
ENST00000645242.1:c.1226G>T ENSP00000494690.1:p.Arg409Leu
ENST00000259089.8:c.1439G>T ENSP00000259089.4:p.Arg480Leu
ENST00000526097.1:n.1379G>T
ENST00000529894.1:c.1226G>T ENSP00000433663.1:p.Arg409Leu
NM_001715.2:c.1439G>T NP_001706.2:p.Arg480Leu
XM_011543824.1:c.1517G>T XP_011542126.1:p.Arg506Leu
XM_011543825.1:c.1517G>T XP_011542127.1:p.Arg506Leu
XM_011543826.1:c.1517G>T XP_011542128.1:p.Arg506Leu
XM_011543827.1:c.1304G>T XP_011542129.1:p.Arg435Leu
NM_001330465.1:c.1226G>T NP_001317394.1:p.Arg409Leu
XM_011543825.3:c.1517G>T XP_011542127.1:p.Arg506Leu
NM_001715.3:c.1439G>T MANE Select NP_001706.2:p.Arg480Leu
NM_001330465.2:c.1226G>T NP_001317394.1:p.Arg409Leu