Canonical Allele Identifier: CA8440151

Gene: B9D1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19343793C>T , CM000679.2:g.19343793C>T	GRCh38
NC_000017.10:g.19247106C>T , CM000679.1:g.19247106C>T	GRCh37
NC_000017.9:g.19187699C>T	NCBI36
NG_031885.1:g.39390G>A
NG_031885.2:g.39401G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261499.11:c.469G>A MANE Select	ENSP00000261499.4:p.Glu157Lys
ENST00000261499.10:c.469G>A	ENSP00000261499.4:p.Glu157Lys
ENST00000477478.7:c.109G>A	ENSP00000460939.2:p.Glu37Lys
ENST00000575478.7:c.109G>A	ENSP00000458525.3:p.Glu37Lys
ENST00000582857.2:c.109G>A	ENSP00000463165.2:p.Glu37Lys
ENST00000642870.2:c.109G>A	ENSP00000496409.2:p.Glu37Lys
ENST00000646248.1:c.262G>A	ENSP00000493599.1:p.Glu88Lys
ENST00000647056.1:c.*83G>A	ENSP00000496502.1:n.*83G>A
ENST00000647252.1:c.469G>A	ENSP00000495045.1:p.Glu157Lys
ENST00000663089.1:c.532G>A	ENSP00000499469.1:p.Glu178Lys
ENST00000671102.1:c.532G>A	ENSP00000499690.1:p.Glu178Lys
ENST00000674596.1:c.294G>A	ENSP00000501877.1:p.Gly98=
ENST00000675510.1:c.404+3476G>A	ENSP00000501817.1:n.404+3476G>A
ENST00000261499.8:c.469G>A	ENSP00000261499.4:p.Glu157Lys
ENST00000395615.5:c.469G>A	ENSP00000378977.1:p.Glu157Lys
ENST00000395616.7:c.469G>A	ENSP00000378978.3:p.Glu157Lys
ENST00000461069.6:c.469G>A	ENSP00000433359.2:p.Glu157Lys
ENST00000477478.6:c.396G>A	ENSP00000460939.1:p.Gly132=
ENST00000575403.5:c.396G>A	ENSP00000459857.1:p.Gly132=
ENST00000575478.5:c.396G>A	ENSP00000458525.1:p.Gly132=
NM_001243473.1:c.528G>A	NP_001230402.1:p.Gly176=
NM_001243475.1:c.396G>A	NP_001230404.1:p.Gly132=
NM_015681.3:c.469G>A	NP_056496.1:p.Glu157Lys
XM_005256605.2:c.469G>A	XP_005256662.1:p.Glu157Lys
XM_005256607.2:c.469G>A	XP_005256664.1:p.Glu157Lys
XM_005256608.2:c.404+3476G>A	XP_005256665.1:n.404+3476G>A
XM_011523793.1:c.469G>A	XP_011522095.1:p.Glu157Lys
XM_011523794.1:c.469G>A	XP_011522096.1:p.Glu157Lys
NM_001243473.2:c.528G>A	NP_001230402.1:p.Gly176=
NM_001243475.2:c.396G>A	NP_001230404.1:p.Gly132=
NM_001321214.1:c.469G>A	NP_001308143.1:p.Glu157Lys
NM_001321215.1:c.469G>A	NP_001308144.1:p.Glu157Lys
NM_001321217.1:c.469G>A	NP_001308146.1:p.Glu157Lys
NM_001321218.1:c.469G>A	NP_001308147.1:p.Glu157Lys
NM_001321219.1:c.404+3476G>A	NP_001308148.1:n.404+3476G>A
NM_001330149.1:c.469G>A	NP_001317078.1:p.Glu157Lys
NM_015681.4:c.469G>A	NP_056496.1:p.Glu157Lys
NM_001321214.2:c.469G>A	NP_001308143.1:p.Glu157Lys
NM_001321215.2:c.469G>A	NP_001308144.1:p.Glu157Lys
NM_001321217.2:c.469G>A	NP_001308146.1:p.Glu157Lys
NM_001321218.2:c.469G>A	NP_001308147.1:p.Glu157Lys
NM_001321219.2:c.404+3476G>A	NP_001308148.1:n.404+3476G>A
NM_001368769.2:c.109G>A	NP_001355698.1:p.Glu37Lys
NM_015681.5:c.469G>A	NP_056496.1:p.Glu157Lys
NM_001321215.3:c.469G>A	NP_001308144.1:p.Glu157Lys
NM_001330149.2:c.469G>A	NP_001317078.1:p.Glu157Lys
NM_015681.6:c.469G>A MANE Select	NP_056496.1:p.Glu157Lys