Canonical Allele Identifier: CA370316829
Gene: BLK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.11564003G>C , CM000670.2:g.11564003G>C GRCh38
NC_000008.10:g.11421512G>C , CM000670.1:g.11421512G>C GRCh37
NC_000008.9:g.11458921G>C NCBI36
NG_023543.1:g.74992G>C
NG_023543.2:g.74992G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696154.2:n.1521G>C
ENST00000696154.1:c.*731G>C ENSP00000512445.1:n.*731G>C
ENST00000696155.1:n.297G>C
ENST00000259089.9:c.1413G>C MANE Select ENSP00000259089.4:p.Glu471Asp
ENST00000645242.1:c.1200G>C ENSP00000494690.1:p.Glu400Asp
ENST00000259089.8:c.1413G>C ENSP00000259089.4:p.Glu471Asp
ENST00000526097.1:n.1353G>C
ENST00000529894.1:c.1200G>C ENSP00000433663.1:p.Glu400Asp
NM_001715.2:c.1413G>C NP_001706.2:p.Glu471Asp
XM_011543824.1:c.1491G>C XP_011542126.1:p.Glu497Asp
XM_011543825.1:c.1491G>C XP_011542127.1:p.Glu497Asp
XM_011543826.1:c.1491G>C XP_011542128.1:p.Glu497Asp
XM_011543827.1:c.1278G>C XP_011542129.1:p.Glu426Asp
NM_001330465.1:c.1200G>C NP_001317394.1:p.Glu400Asp
XM_011543825.3:c.1491G>C XP_011542127.1:p.Glu497Asp
NM_001715.3:c.1413G>C MANE Select NP_001706.2:p.Glu471Asp
NM_001330465.2:c.1200G>C NP_001317394.1:p.Glu400Asp