Canonical Allele Identifier: CA172072882

Gene: BLK

Linked Data

• dbSNP Id: rs919928429
• gnomAD v4: 8-11548074-A-G
• MyVariant Identifiers: chr8:g.11405583A>G (hg19) ; chr8:g.11548074A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11548074A>G , CM000670.2:g.11548074A>G	GRCh38
NC_000008.10:g.11405583A>G , CM000670.1:g.11405583A>G	GRCh37
NC_000008.9:g.11442992A>G	NCBI36
NG_023543.1:g.59063A>G
NG_023543.2:g.59063A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.369A>G
ENST00000696154.1:c.5A>G	ENSP00000512445.1:p.Asn2Ser
ENST00000259089.9:c.218A>G MANE Select	ENSP00000259089.4:p.Asn73Ser
ENST00000645242.1:c.5A>G	ENSP00000494690.1:p.Asn2Ser
ENST00000259089.8:c.218A>G	ENSP00000259089.4:p.Asn73Ser
ENST00000529894.1:c.5A>G	ENSP00000433663.1:p.Asn2Ser
ENST00000533828.1:n.416A>G
NM_001715.2:c.218A>G	NP_001706.2:p.Asn73Ser
XM_011543824.1:c.218A>G	XP_011542126.1:p.Asn73Ser
XM_011543825.1:c.218A>G	XP_011542127.1:p.Asn73Ser
XM_011543826.1:c.218A>G	XP_011542128.1:p.Asn73Ser
XM_011543827.1:c.5A>G	XP_011542129.1:p.Asn2Ser
XM_011543828.1:c.218A>G	XP_011542130.1:p.Asn73Ser
XM_011543829.1:c.218A>G	XP_011542131.1:p.Asn73Ser
NM_001330465.1:c.5A>G	NP_001317394.1:p.Asn2Ser
XM_011543825.3:c.218A>G	XP_011542127.1:p.Asn73Ser
XM_011543828.3:c.218A>G	XP_011542130.1:p.Asn73Ser
XM_011543829.3:c.218A>G	XP_011542131.1:p.Asn73Ser
NM_001715.3:c.218A>G MANE Select	NP_001706.2:p.Asn73Ser
NM_001330465.2:c.5A>G	NP_001317394.1:p.Asn2Ser