Canonical Allele Identifier: CA498585029

Gene: B9D1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19362561G>C , CM000679.2:g.19362561G>C	GRCh38
NC_000017.10:g.19265874G>C , CM000679.1:g.19265874G>C	GRCh37
NC_000017.9:g.19206467G>C	NCBI36
NG_031885.1:g.20622C>G
NG_031885.2:g.20633C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015681.6:c.9C>G MANE Select	NP_056496.1:p.Thr3=
ENST00000261499.11:c.9C>G MANE Select	ENSP00000261499.4:p.Thr3=
NM_001243473.1:c.122+39C>G	NP_001230402.1:n.122+39C>G
NM_001243473.2:c.122+39C>G	NP_001230402.1:n.122+39C>G
NM_001243475.1:c.-10-2173C>G	NP_001230404.1:n.-10-2173C>G
NM_001243475.2:c.-10-2173C>G	NP_001230404.1:n.-10-2173C>G
NM_001321214.1:c.9C>G	NP_001308143.1:p.Thr3=
NM_001321214.2:c.9C>G	NP_001308143.1:p.Thr3=
NM_001321215.1:c.9C>G	NP_001308144.1:p.Thr3=
NM_001321215.2:c.9C>G	NP_001308144.1:p.Thr3=
NM_001321215.3:c.9C>G	NP_001308144.1:p.Thr3=
NM_001321216.1:c.9C>G	NP_001308145.1:p.Thr3=
NM_001321216.2:c.9C>G	NP_001308145.1:p.Thr3=
NM_001321217.1:c.9C>G	NP_001308146.1:p.Thr3=
NM_001321217.2:c.9C>G	NP_001308146.1:p.Thr3=
NM_001321218.1:c.9C>G	NP_001308147.1:p.Thr3=
NM_001321218.2:c.9C>G	NP_001308147.1:p.Thr3=
NM_001321219.1:c.9C>G	NP_001308148.1:p.Thr3=
NM_001321219.2:c.9C>G	NP_001308148.1:p.Thr3=
NM_001330149.1:c.9C>G	NP_001317078.1:p.Thr3=
NM_001330149.2:c.9C>G	NP_001317078.1:p.Thr3=
NM_001368769.2:c.-297-2173C>G	NP_001355698.1:n.-297-2173C>G
NM_015681.3:c.9C>G	NP_056496.1:p.Thr3=
NM_015681.4:c.9C>G	NP_056496.1:p.Thr3=
NM_015681.5:c.9C>G	NP_056496.1:p.Thr3=
ENST00000261499.10:c.9C>G	ENSP00000261499.4:p.Thr3=
ENST00000261499.8:c.9C>G	ENSP00000261499.4:p.Thr3=
ENST00000268841.10:c.9C>G	ENSP00000268841.6:p.Thr3=
ENST00000395615.5:c.9C>G	ENSP00000378977.1:p.Thr3=
ENST00000395616.7:c.9C>G	ENSP00000378978.3:p.Thr3=
ENST00000461069.6:c.9C>G	ENSP00000433359.2:p.Thr3=
ENST00000477478.6:c.-10-2173C>G	ENSP00000460939.1:n.-10-2173C>G
ENST00000477478.7:c.-297-2173C>G	ENSP00000460939.2:n.-297-2173C>G
ENST00000477683.5:n.153C>G
ENST00000487415.6:c.-10-2173C>G	ENSP00000463255.1:n.-10-2173C>G
ENST00000574508.6:c.-11+305C>G	ENSP00000462565.1:n.-11+305C>G
ENST00000574508.7:c.-298+305C>G	ENSP00000462565.2:n.-298+305C>G
ENST00000575403.5:c.-10-2173C>G	ENSP00000459857.1:n.-10-2173C>G
ENST00000575478.5:c.-11+39C>G	ENSP00000458525.1:n.-11+39C>G
ENST00000575478.7:c.-298+39C>G	ENSP00000458525.3:n.-298+39C>G
ENST00000582857.1:c.59C>G	ENSP00000463165.1:p.Pro20Arg
ENST00000582857.2:c.-297-2173C>G	ENSP00000463165.2:n.-297-2173C>G
ENST00000642870.2:c.-297-2173C>G	ENSP00000496409.2:n.-297-2173C>G
ENST00000647056.1:c.9C>G	ENSP00000496502.1:p.Thr3=
ENST00000647252.1:c.9C>G	ENSP00000495045.1:p.Thr3=
ENST00000663089.1:c.9C>G	ENSP00000499469.1:p.Thr3=
ENST00000671102.1:c.9C>G	ENSP00000499690.1:p.Thr3=
ENST00000674596.1:c.-43-4610C>G	ENSP00000501877.1:n.-43-4610C>G
ENST00000675510.1:c.9C>G	ENSP00000501817.1:p.Thr3=
XM_005256605.2:c.9C>G	XP_005256662.1:p.Thr3=
XM_005256607.2:c.9C>G	XP_005256664.1:p.Thr3=
XM_005256608.2:c.9C>G	XP_005256665.1:p.Thr3=
XM_005256609.1:c.9C>G	XP_005256666.1:p.Thr3=
XM_005256610.1:c.9C>G	XP_005256667.1:p.Thr3=
XM_005256610.2:c.9C>G	XP_005256667.1:p.Thr3=
XM_011523793.1:c.9C>G	XP_011522095.1:p.Thr3=
XM_011523794.1:c.9C>G	XP_011522096.1:p.Thr3=