Canonical Allele Identifier: CA398692345

Gene: B9D1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19343405C>G , CM000679.2:g.19343405C>G	GRCh38
NC_000017.10:g.19246718C>G , CM000679.1:g.19246718C>G	GRCh37
NC_000017.9:g.19187311C>G	NCBI36
NG_031885.1:g.39778G>C
NG_031885.2:g.39789G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015681.6:c.529G>C MANE Select	NP_056496.1:p.Asp177His
ENST00000261499.11:c.529G>C MANE Select	ENSP00000261499.4:p.Asp177His
NM_001243473.1:c.*142G>C	NP_001230402.1:n.*142G>C
NM_001243473.2:c.*142G>C	NP_001230402.1:n.*142G>C
NM_001243475.1:c.399+385G>C	NP_001230404.1:n.399+385G>C
NM_001243475.2:c.399+385G>C	NP_001230404.1:n.399+385G>C
NM_001321214.1:c.*54G>C	NP_001308143.1:n.*54G>C
NM_001321214.2:c.*54G>C	NP_001308143.1:n.*54G>C
NM_001321215.1:c.*305G>C	NP_001308144.1:n.*305G>C
NM_001321215.2:c.*305G>C	NP_001308144.1:n.*305G>C
NM_001321215.3:c.*305G>C	NP_001308144.1:n.*305G>C
NM_001321217.1:c.472+385G>C	NP_001308146.1:n.472+385G>C
NM_001321217.2:c.472+385G>C	NP_001308146.1:n.472+385G>C
NM_001321218.1:c.472+385G>C	NP_001308147.1:n.472+385G>C
NM_001321218.2:c.472+385G>C	NP_001308147.1:n.472+385G>C
NM_001321219.1:c.404+3864G>C	NP_001308148.1:n.404+3864G>C
NM_001321219.2:c.404+3864G>C	NP_001308148.1:n.404+3864G>C
NM_001368769.2:c.112+385G>C	NP_001355698.1:n.112+385G>C
NM_015681.3:c.529G>C	NP_056496.1:p.Asp177His
NM_015681.4:c.529G>C	NP_056496.1:p.Asp177His
NM_015681.5:c.529G>C	NP_056496.1:p.Asp177His
ENST00000261499.10:c.529G>C	ENSP00000261499.4:p.Asp177His
ENST00000261499.8:c.529G>C	ENSP00000261499.4:p.Asp177His
ENST00000395615.5:c.*77G>C	ENSP00000378977.1:n.*77G>C
ENST00000461069.6:c.472+385G>C	ENSP00000433359.2:n.472+385G>C
ENST00000477478.6:c.*142G>C	ENSP00000460939.1:n.*142G>C
ENST00000477478.7:c.*305G>C	ENSP00000460939.2:n.*305G>C
ENST00000575403.5:c.399+385G>C	ENSP00000459857.1:n.399+385G>C
ENST00000582857.2:c.112+385G>C	ENSP00000463165.2:n.112+385G>C
ENST00000642870.2:c.169G>C	ENSP00000496409.2:p.Asp57His
ENST00000646248.1:c.356G>C	ENSP00000493599.1:n.356G>C
ENST00000647056.1:c.*86+385G>C	ENSP00000496502.1:n.*86+385G>C
ENST00000647252.1:c.*305G>C	ENSP00000495045.1:n.*305G>C
ENST00000663089.1:c.*305G>C	ENSP00000499469.1:n.*305G>C
ENST00000671102.1:c.535+385G>C	ENSP00000499690.1:n.535+385G>C
ENST00000674596.1:c.297+385G>C	ENSP00000501877.1:n.297+385G>C
ENST00000675510.1:c.404+3864G>C	ENSP00000501817.1:n.404+3864G>C
XM_005256605.2:c.472+385G>C	XP_005256662.1:n.472+385G>C
XM_005256607.2:c.*77G>C	XP_005256664.1:n.*77G>C
XM_005256608.2:c.404+3864G>C	XP_005256665.1:n.404+3864G>C
XM_011523793.1:c.*54G>C	XP_011522095.1:n.*54G>C
XM_011523794.1:c.472+385G>C	XP_011522096.1:n.472+385G>C