Canonical Allele Identifier: CA398694934

Gene: B9D1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19343835C>T , CM000679.2:g.19343835C>T	GRCh38
NC_000017.10:g.19247148C>T , CM000679.1:g.19247148C>T	GRCh37
NC_000017.9:g.19187741C>T	NCBI36
NG_031885.1:g.39348G>A
NG_031885.2:g.39359G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261499.11:c.427G>A MANE Select	ENSP00000261499.4:p.Glu143Lys
ENST00000261499.10:c.427G>A	ENSP00000261499.4:p.Glu143Lys
ENST00000477478.7:c.67G>A	ENSP00000460939.2:p.Glu23Lys
ENST00000575478.7:c.67G>A	ENSP00000458525.3:p.Glu23Lys
ENST00000582857.2:c.67G>A	ENSP00000463165.2:p.Glu23Lys
ENST00000642870.2:c.67G>A	ENSP00000496409.2:p.Glu23Lys
ENST00000646248.1:c.220G>A	ENSP00000493599.1:p.Glu74Lys
ENST00000647056.1:c.*41G>A	ENSP00000496502.1:n.*41G>A
ENST00000647252.1:c.427G>A	ENSP00000495045.1:p.Glu143Lys
ENST00000663089.1:c.490G>A	ENSP00000499469.1:p.Glu164Lys
ENST00000671102.1:c.490G>A	ENSP00000499690.1:p.Glu164Lys
ENST00000674596.1:c.252G>A	ENSP00000501877.1:p.Pro84=
ENST00000675510.1:c.404+3434G>A	ENSP00000501817.1:n.404+3434G>A
ENST00000261499.8:c.427G>A	ENSP00000261499.4:p.Glu143Lys
ENST00000395615.5:c.427G>A	ENSP00000378977.1:p.Glu143Lys
ENST00000395616.7:c.427G>A	ENSP00000378978.3:p.Glu143Lys
ENST00000461069.6:c.427G>A	ENSP00000433359.2:p.Glu143Lys
ENST00000477478.6:c.354G>A	ENSP00000460939.1:p.Pro118=
ENST00000575403.5:c.354G>A	ENSP00000459857.1:p.Pro118=
ENST00000575478.5:c.354G>A	ENSP00000458525.1:p.Pro118=
NM_001243473.1:c.486G>A	NP_001230402.1:p.Pro162=
NM_001243475.1:c.354G>A	NP_001230404.1:p.Pro118=
NM_015681.3:c.427G>A	NP_056496.1:p.Glu143Lys
XM_005256605.2:c.427G>A	XP_005256662.1:p.Glu143Lys
XM_005256607.2:c.427G>A	XP_005256664.1:p.Glu143Lys
XM_005256608.2:c.404+3434G>A	XP_005256665.1:n.404+3434G>A
XM_011523793.1:c.427G>A	XP_011522095.1:p.Glu143Lys
XM_011523794.1:c.427G>A	XP_011522096.1:p.Glu143Lys
NM_001243473.2:c.486G>A	NP_001230402.1:p.Pro162=
NM_001243475.2:c.354G>A	NP_001230404.1:p.Pro118=
NM_001321214.1:c.427G>A	NP_001308143.1:p.Glu143Lys
NM_001321215.1:c.427G>A	NP_001308144.1:p.Glu143Lys
NM_001321217.1:c.427G>A	NP_001308146.1:p.Glu143Lys
NM_001321218.1:c.427G>A	NP_001308147.1:p.Glu143Lys
NM_001321219.1:c.404+3434G>A	NP_001308148.1:n.404+3434G>A
NM_001330149.1:c.427G>A	NP_001317078.1:p.Glu143Lys
NM_015681.4:c.427G>A	NP_056496.1:p.Glu143Lys
NM_001321214.2:c.427G>A	NP_001308143.1:p.Glu143Lys
NM_001321215.2:c.427G>A	NP_001308144.1:p.Glu143Lys
NM_001321217.2:c.427G>A	NP_001308146.1:p.Glu143Lys
NM_001321218.2:c.427G>A	NP_001308147.1:p.Glu143Lys
NM_001321219.2:c.404+3434G>A	NP_001308148.1:n.404+3434G>A
NM_001368769.2:c.67G>A	NP_001355698.1:p.Glu23Lys
NM_015681.5:c.427G>A	NP_056496.1:p.Glu143Lys
NM_001321215.3:c.427G>A	NP_001308144.1:p.Glu143Lys
NM_001330149.2:c.427G>A	NP_001317078.1:p.Glu143Lys
NM_015681.6:c.427G>A MANE Select	NP_056496.1:p.Glu143Lys