Canonical Allele Identifier: CA8440071

Gene: B9D1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19343366T>A , CM000679.2:g.19343366T>A	GRCh38
NC_000017.10:g.19246679T>A , CM000679.1:g.19246679T>A	GRCh37
NC_000017.9:g.19187272T>A	NCBI36
NG_031885.1:g.39817A>T
NG_031885.2:g.39828A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015681.6:c.568A>T MANE Select	NP_056496.1:p.Thr190Ser
ENST00000261499.11:c.568A>T MANE Select	ENSP00000261499.4:p.Thr190Ser
NM_001243473.1:c.*181A>T	NP_001230402.1:n.*181A>T
NM_001243473.2:c.*181A>T	NP_001230402.1:n.*181A>T
NM_001243475.1:c.399+424A>T	NP_001230404.1:n.399+424A>T
NM_001243475.2:c.399+424A>T	NP_001230404.1:n.399+424A>T
NM_001321214.1:c.*93A>T	NP_001308143.1:n.*93A>T
NM_001321214.2:c.*93A>T	NP_001308143.1:n.*93A>T
NM_001321215.1:c.*344A>T	NP_001308144.1:n.*344A>T
NM_001321215.2:c.*344A>T	NP_001308144.1:n.*344A>T
NM_001321215.3:c.*344A>T	NP_001308144.1:n.*344A>T
NM_001321217.1:c.472+424A>T	NP_001308146.1:n.472+424A>T
NM_001321217.2:c.472+424A>T	NP_001308146.1:n.472+424A>T
NM_001321218.1:c.472+424A>T	NP_001308147.1:n.472+424A>T
NM_001321218.2:c.472+424A>T	NP_001308147.1:n.472+424A>T
NM_001321219.1:c.404+3903A>T	NP_001308148.1:n.404+3903A>T
NM_001321219.2:c.404+3903A>T	NP_001308148.1:n.404+3903A>T
NM_001368769.2:c.112+424A>T	NP_001355698.1:n.112+424A>T
NM_015681.3:c.568A>T	NP_056496.1:p.Thr190Ser
NM_015681.4:c.568A>T	NP_056496.1:p.Thr190Ser
NM_015681.5:c.568A>T	NP_056496.1:p.Thr190Ser
ENST00000261499.10:c.568A>T	ENSP00000261499.4:p.Thr190Ser
ENST00000261499.8:c.568A>T	ENSP00000261499.4:p.Thr190Ser
ENST00000395615.5:c.*116A>T	ENSP00000378977.1:n.*116A>T
ENST00000461069.6:c.472+424A>T	ENSP00000433359.2:n.472+424A>T
ENST00000477478.6:c.*181A>T	ENSP00000460939.1:n.*181A>T
ENST00000477478.7:c.*344A>T	ENSP00000460939.2:n.*344A>T
ENST00000575403.5:c.399+424A>T	ENSP00000459857.1:n.399+424A>T
ENST00000582857.2:c.112+424A>T	ENSP00000463165.2:n.112+424A>T
ENST00000642870.2:c.208A>T	ENSP00000496409.2:p.Thr70Ser
ENST00000646248.1:c.395A>T	ENSP00000493599.1:n.395A>T
ENST00000647056.1:c.*86+424A>T	ENSP00000496502.1:n.*86+424A>T
ENST00000647252.1:c.*344A>T	ENSP00000495045.1:n.*344A>T
ENST00000663089.1:c.*344A>T	ENSP00000499469.1:n.*344A>T
ENST00000671102.1:c.535+424A>T	ENSP00000499690.1:n.535+424A>T
ENST00000674596.1:c.297+424A>T	ENSP00000501877.1:n.297+424A>T
ENST00000675510.1:c.404+3903A>T	ENSP00000501817.1:n.404+3903A>T
XM_005256605.2:c.472+424A>T	XP_005256662.1:n.472+424A>T
XM_005256607.2:c.*116A>T	XP_005256664.1:n.*116A>T
XM_005256608.2:c.404+3903A>T	XP_005256665.1:n.404+3903A>T
XM_011523794.1:c.472+424A>T	XP_011522096.1:n.472+424A>T