Canonical Allele Identifier: CA9017992

Gene: BSG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.581371A>G , CM000681.2:g.581371A>G	GRCh38
NC_000019.9:g.581371A>G , CM000681.1:g.581371A>G	GRCh37
NC_000019.8:g.532371A>G	NCBI36
NG_007468.1:g.15047A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333511.9:c.849A>G MANE Select	ENSP00000333769.3:p.Ser283=
ENST00000346916.9:c.222A>G	ENSP00000344707.4:p.Ser74=
ENST00000353555.9:c.501A>G	ENSP00000343809.4:p.Ser167=
ENST00000571735.3:n.1084A>G
ENST00000572899.6:n.726A>G
ENST00000573784.6:c.222A>G	ENSP00000473393.2:p.Ser74=
ENST00000576925.4:n.1286A>G
ENST00000576984.3:c.222A>G	ENSP00000473528.2:p.Ser74=
ENST00000613627.5:c.*179A>G	ENSP00000484849.2:n.*179A>G
ENST00000618112.4:c.491A>G	ENSP00000495088.2:n.491A>G
ENST00000679472.1:c.222A>G	ENSP00000505067.1:p.Ser74=
ENST00000680065.1:c.222A>G	ENSP00000506020.1:p.Ser74=
ENST00000680326.1:c.492A>G	ENSP00000505863.1:p.Ser164=
ENST00000680551.1:n.193A>G
ENST00000680552.1:c.501A>G	ENSP00000506321.1:p.Ser167=
ENST00000333511.7:c.849A>G	ENSP00000333769.3:p.Ser283=
ENST00000346916.8:c.309A>G	ENSP00000344707.3:p.Ser103=
ENST00000353555.8:c.501A>G	ENSP00000343809.4:p.Ser167=
ENST00000545507.6:c.222A>G	ENSP00000473664.1:p.Ser74=
ENST00000571735.2:n.1098A>G
ENST00000573216.5:c.477A>G	ENSP00000458665.1:p.Ser159=
ENST00000573784.5:c.222A>G	ENSP00000473393.1:p.Ser74=
ENST00000613627.4:c.492A>G	ENSP00000484849.1:p.Ser164=
ENST00000614867.2:c.148-1149A>G	ENSP00000484624.1:n.148-1149A>G
ENST00000618006.4:c.261A>G	ENSP00000478958.1:p.Ser87=
NM_001728.3:c.849A>G	NP_001719.2:p.Ser283=
NM_198589.2:c.501A>G	NP_940991.1:p.Ser167=
NM_198590.2:c.222A>G	NP_940992.1:p.Ser74=
NM_198591.2:c.309A>G	NP_940993.1:p.Ser103=
XM_005259619.1:c.501A>G	XP_005259676.1:p.Ser167=
NM_001322243.1:c.501A>G	NP_001309172.1:p.Ser167=
XM_017027173.2:c.849A>G	XP_016882662.1:p.Ser283=
NM_001322243.2:c.501A>G	NP_001309172.1:p.Ser167=
NM_001728.4:c.849A>G MANE Select	NP_001719.2:p.Ser283=
NM_198589.3:c.501A>G	NP_940991.1:p.Ser167=
NM_198590.3:c.222A>G	NP_940992.1:p.Ser74=
NM_198591.3:c.309A>G	NP_940993.1:p.Ser103=
NM_198591.4:c.222A>G	NP_940993.2:p.Ser74=