Canonical Allele Identifier: CA9017530

Gene: BSG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.577782G>T , CM000681.2:g.577782G>T	GRCh38
NC_000019.9:g.577782G>T , CM000681.1:g.577782G>T	GRCh37
NC_000019.8:g.528782G>T	NCBI36
NG_007468.1:g.11458G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333511.9:c.76G>T MANE Select	ENSP00000333769.3:p.Val26Phe
ENST00000346916.9:c.-55-2597G>T	ENSP00000344707.4:n.-55-2597G>T
ENST00000353555.9:c.68-1718G>T	ENSP00000343809.4:n.68-1718G>T
ENST00000572899.6:n.109-1718G>T
ENST00000573784.6:c.-212-1718G>T	ENSP00000473393.2:n.-212-1718G>T
ENST00000576925.4:n.131-1718G>T
ENST00000576984.3:c.-212-1718G>T	ENSP00000473528.2:n.-212-1718G>T
ENST00000613627.5:c.68-2597G>T	ENSP00000484849.2:n.68-2597G>T
ENST00000618112.4:c.68-1718G>T	ENSP00000495088.2:n.68-1718G>T
ENST00000679472.1:c.-212-1718G>T	ENSP00000505067.1:n.-212-1718G>T
ENST00000680065.1:c.-212-1718G>T	ENSP00000506020.1:n.-212-1718G>T
ENST00000680326.1:c.68-1727G>T	ENSP00000505863.1:n.68-1727G>T
ENST00000680552.1:c.68-1718G>T	ENSP00000506321.1:n.68-1718G>T
ENST00000333511.7:c.76G>T	ENSP00000333769.3:p.Val26Phe
ENST00000346916.8:c.33-2597G>T	ENSP00000344707.3:n.33-2597G>T
ENST00000353555.8:c.68-1718G>T	ENSP00000343809.4:n.68-1718G>T
ENST00000545507.6:c.-212-1718G>T	ENSP00000473664.1:n.-212-1718G>T
ENST00000572899.5:n.109-1718G>T
ENST00000573216.5:c.68-1742G>T	ENSP00000458665.1:n.68-1742G>T
ENST00000573784.5:c.-212-1718G>T	ENSP00000473393.1:n.-212-1718G>T
ENST00000574970.2:n.101G>T
ENST00000576925.3:n.131-1718G>T
ENST00000576984.2:c.-212-1718G>T	ENSP00000473528.1:n.-212-1718G>T
ENST00000590218.4:n.115G>T
ENST00000613627.4:c.68-1727G>T	ENSP00000484849.1:n.68-1727G>T
ENST00000614867.2:c.68-1718G>T	ENSP00000484624.1:n.68-1718G>T
ENST00000618006.4:c.68-2864G>T	ENSP00000478958.1:n.68-2864G>T
NM_001728.3:c.76G>T	NP_001719.2:p.Val26Phe
NM_198589.2:c.68-1718G>T	NP_940991.1:n.68-1718G>T
NM_198590.2:c.-212-1718G>T	NP_940992.1:n.-212-1718G>T
NM_198591.2:c.33-2597G>T	NP_940993.1:n.33-2597G>T
XM_005259619.1:c.68-1718G>T	XP_005259676.1:n.68-1718G>T
NM_001322243.1:c.68-1718G>T	NP_001309172.1:n.68-1718G>T
XM_017027173.2:c.76G>T	XP_016882662.1:p.Val26Phe
NM_001322243.2:c.68-1718G>T	NP_001309172.1:n.68-1718G>T
NM_001728.4:c.76G>T MANE Select	NP_001719.2:p.Val26Phe
NM_198589.3:c.68-1718G>T	NP_940991.1:n.68-1718G>T
NM_198590.3:c.-212-1718G>T	NP_940992.1:n.-212-1718G>T
NM_198591.3:c.33-2597G>T	NP_940993.1:n.33-2597G>T
NM_198591.4:c.-55-2597G>T	NP_940993.2:n.-55-2597G>T