Canonical Allele Identifier: CA127371
Gene: BSG HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 17751
ClinVar RCV Id: RCV000019327
dbSNP Id: rs104894669

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.580428G>A , CM000681.2:g.580428G>A GRCh38
NC_000019.9:g.580428G>A , CM000681.1:g.580428G>A GRCh37
NC_000019.8:g.531428G>A NCBI36
NG_007468.1:g.14104G>A

Transcript Alleles

HGVS Amino-acid change
NM_001728.3:c.622G>A VV NP_001719.2:p.Glu208Lys
NM_198589.2:c.274G>A VV NP_940991.1:p.Glu92Lys
NM_198590.2:c.-6G>A VV NP_940992.1:p.=
NM_198591.2:c.82G>A VV NP_940993.1:p.Glu28Lys
XM_005259619.1:c.274G>A XP_005259676.1:p.Glu92Lys
NM_001322243.1:c.274G>A VV NP_001309172.1:p.Glu92Lys
XM_017027173.2:c.622G>A XP_016882662.1:p.Glu208Lys
ENST00000333511.7:c.622G>A ENSP00000333769.3:p.Glu208Lys
ENST00000346916.8:c.82G>A ENSP00000344707.3:p.Glu28Lys
ENST00000353555.8:c.274G>A ENSP00000343809.4:p.Glu92Lys
ENST00000545507.6:c.-6G>A ENSP00000473664.1:p.=
ENST00000571735.2:n.871G>A
ENST00000572899.5:n.315G>A
ENST00000573216.5:c.250G>A ENSP00000458665.1:p.Glu84Lys
ENST00000573784.5:c.-6G>A ENSP00000473393.1:p.=
ENST00000576984.2:c.-6G>A ENSP00000473528.1:p.=
ENST00000613627.4:c.265G>A ENSP00000484849.1:p.Glu89Lys
ENST00000614867.2:c.147+849G>A ENSP00000484624.1:p.=
ENST00000618006.4:c.68-218G>A ENSP00000478958.1:p.=