Canonical Allele Identifier: CA8440238

Gene: B9D1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19347292C>T , CM000679.2:g.19347292C>T	GRCh38
NC_000017.10:g.19250605C>T , CM000679.1:g.19250605C>T	GRCh37
NC_000017.9:g.19191198C>T	NCBI36
NG_031885.1:g.35891G>A
NG_031885.2:g.35902G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261499.11:c.381G>A MANE Select	ENSP00000261499.4:p.Thr127=
ENST00000261499.10:c.381G>A	ENSP00000261499.4:p.Thr127=
ENST00000477478.7:c.21G>A	ENSP00000460939.2:p.Thr7=
ENST00000574508.7:c.21G>A	ENSP00000462565.2:p.Thr7=
ENST00000575478.7:c.21G>A	ENSP00000458525.3:p.Thr7=
ENST00000582857.2:c.21G>A	ENSP00000463165.2:p.Thr7=
ENST00000642870.2:c.21G>A	ENSP00000496409.2:p.Thr7=
ENST00000646248.1:c.174G>A	ENSP00000493599.1:p.Thr58=
ENST00000647056.1:c.373G>A	ENSP00000496502.1:p.Val125Ile
ENST00000647252.1:c.381G>A	ENSP00000495045.1:p.Thr127=
ENST00000663089.1:c.444G>A	ENSP00000499469.1:p.Thr148=
ENST00000671102.1:c.444G>A	ENSP00000499690.1:p.Thr148=
ENST00000674596.1:c.206G>A	ENSP00000501877.1:p.Arg69His
ENST00000675510.1:c.381G>A	ENSP00000501817.1:p.Thr127=
ENST00000261499.8:c.381G>A	ENSP00000261499.4:p.Thr127=
ENST00000268841.10:c.381G>A	ENSP00000268841.6:p.Thr127=
ENST00000395615.5:c.381G>A	ENSP00000378977.1:p.Thr127=
ENST00000395616.7:c.381G>A	ENSP00000378978.3:p.Thr127=
ENST00000440841.1:c.354G>A	ENSP00000410835.1:p.Thr118=
ENST00000461069.6:c.381G>A	ENSP00000433359.2:p.Thr127=
ENST00000477478.6:c.308G>A	ENSP00000460939.1:p.Arg103His
ENST00000477683.5:n.525G>A
ENST00000574508.6:c.308G>A	ENSP00000462565.1:p.Arg103His
ENST00000575403.5:c.308G>A	ENSP00000459857.1:p.Arg103His
ENST00000575478.5:c.308G>A	ENSP00000458525.1:p.Arg103His
ENST00000582857.1:c.494G>A	ENSP00000463165.1:n.494G>A
NM_001243473.1:c.440G>A	NP_001230402.1:p.Arg147His
NM_001243475.1:c.308G>A	NP_001230404.1:p.Arg103His
NM_015681.3:c.381G>A	NP_056496.1:p.Thr127=
XM_005256605.2:c.381G>A	XP_005256662.1:p.Thr127=
XM_005256607.2:c.381G>A	XP_005256664.1:p.Thr127=
XM_005256608.2:c.381G>A	XP_005256665.1:p.Thr127=
XM_005256609.1:c.381G>A	XP_005256666.1:p.Thr127=
XM_005256610.1:c.381G>A	XP_005256667.1:p.Thr127=
XM_011523793.1:c.381G>A	XP_011522095.1:p.Thr127=
XM_011523794.1:c.381G>A	XP_011522096.1:p.Thr127=
NM_001243473.2:c.440G>A	NP_001230402.1:p.Arg147His
NM_001243475.2:c.308G>A	NP_001230404.1:p.Arg103His
NM_001321214.1:c.381G>A	NP_001308143.1:p.Thr127=
NM_001321215.1:c.381G>A	NP_001308144.1:p.Thr127=
NM_001321216.1:c.381G>A	NP_001308145.1:p.Thr127=
NM_001321217.1:c.381G>A	NP_001308146.1:p.Thr127=
NM_001321218.1:c.381G>A	NP_001308147.1:p.Thr127=
NM_001321219.1:c.381G>A	NP_001308148.1:p.Thr127=
NM_001330149.1:c.381G>A	NP_001317078.1:p.Thr127=
NM_015681.4:c.381G>A	NP_056496.1:p.Thr127=
XM_005256610.2:c.381G>A	XP_005256667.1:p.Thr127=
NM_001321214.2:c.381G>A	NP_001308143.1:p.Thr127=
NM_001321215.2:c.381G>A	NP_001308144.1:p.Thr127=
NM_001321216.2:c.381G>A	NP_001308145.1:p.Thr127=
NM_001321217.2:c.381G>A	NP_001308146.1:p.Thr127=
NM_001321218.2:c.381G>A	NP_001308147.1:p.Thr127=
NM_001321219.2:c.381G>A	NP_001308148.1:p.Thr127=
NM_001368769.2:c.21G>A	NP_001355698.1:p.Thr7=
NM_015681.5:c.381G>A	NP_056496.1:p.Thr127=
NM_001321215.3:c.381G>A	NP_001308144.1:p.Thr127=
NM_001330149.2:c.381G>A	NP_001317078.1:p.Thr127=
NM_015681.6:c.381G>A MANE Select	NP_056496.1:p.Thr127=