Canonical Allele Identifier: CA10645053

Gene: B9D1

Linked Data

• ClinVar Variation Id: 322199
• ClinVar RCV Id: RCV000351150
• dbSNP Id: rs886052685
• gnomAD v2: 17-19263675-G-A
• gnomAD v4: 17-19360362-G-A
• MyVariant Identifiers: chr17:g.19263675G>A (hg19) ; chr17:g.19360362G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19360362G>A , CM000679.2:g.19360362G>A	GRCh38
NC_000017.10:g.19263675G>A , CM000679.1:g.19263675G>A	GRCh37
NC_000017.9:g.19204268G>A	NCBI36
NG_031885.1:g.22821C>T
NG_031885.2:g.22832C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261499.11:c.90C>T MANE Select	ENSP00000261499.4:p.Cys30=
ENST00000261499.10:c.90C>T	ENSP00000261499.4:p.Cys30=
ENST00000477478.7:c.-271C>T	ENSP00000460939.2:n.-271C>T
ENST00000574508.7:c.-271C>T	ENSP00000462565.2:n.-271C>T
ENST00000575478.7:c.-271C>T	ENSP00000458525.3:n.-271C>T
ENST00000582857.2:c.-271C>T	ENSP00000463165.2:n.-271C>T
ENST00000642870.2:c.-271C>T	ENSP00000496409.2:n.-271C>T
ENST00000647056.1:c.90C>T	ENSP00000496502.1:p.Cys30=
ENST00000647252.1:c.90C>T	ENSP00000495045.1:p.Cys30=
ENST00000663089.1:c.90C>T	ENSP00000499469.1:p.Cys30=
ENST00000671102.1:c.90C>T	ENSP00000499690.1:p.Cys30=
ENST00000674596.1:c.-43-2411C>T	ENSP00000501877.1:n.-43-2411C>T
ENST00000675510.1:c.90C>T	ENSP00000501817.1:p.Cys30=
ENST00000261499.8:c.90C>T	ENSP00000261499.4:p.Cys30=
ENST00000268841.10:c.90C>T	ENSP00000268841.6:p.Cys30=
ENST00000395615.5:c.90C>T	ENSP00000378977.1:p.Cys30=
ENST00000395616.7:c.90C>T	ENSP00000378978.3:p.Cys30=
ENST00000440841.1:c.63C>T	ENSP00000410835.1:p.Cys21=
ENST00000461069.6:c.90C>T	ENSP00000433359.2:p.Cys30=
ENST00000477478.6:c.17C>T	ENSP00000460939.1:p.Ala6Val
ENST00000477683.5:n.234C>T
ENST00000487415.6:c.17C>T	ENSP00000463255.1:p.Ala6Val
ENST00000574508.6:c.17C>T	ENSP00000462565.1:p.Ala6Val
ENST00000575403.5:c.17C>T	ENSP00000459857.1:p.Ala6Val
ENST00000575478.5:c.17C>T	ENSP00000458525.1:p.Ala6Val
ENST00000582857.1:c.140C>T	ENSP00000463165.1:p.Ala47Val
NM_001243473.1:c.149C>T	NP_001230402.1:p.Ala50Val
NM_001243475.1:c.17C>T	NP_001230404.1:p.Ala6Val
NM_015681.3:c.90C>T	NP_056496.1:p.Cys30=
XM_005256605.2:c.90C>T	XP_005256662.1:p.Cys30=
XM_005256607.2:c.90C>T	XP_005256664.1:p.Cys30=
XM_005256608.2:c.90C>T	XP_005256665.1:p.Cys30=
XM_005256609.1:c.90C>T	XP_005256666.1:p.Cys30=
XM_005256610.1:c.90C>T	XP_005256667.1:p.Cys30=
XM_011523793.1:c.90C>T	XP_011522095.1:p.Cys30=
XM_011523794.1:c.90C>T	XP_011522096.1:p.Cys30=
NM_001243473.2:c.149C>T	NP_001230402.1:p.Ala50Val
NM_001243475.2:c.17C>T	NP_001230404.1:p.Ala6Val
NM_001321214.1:c.90C>T	NP_001308143.1:p.Cys30=
NM_001321215.1:c.90C>T	NP_001308144.1:p.Cys30=
NM_001321216.1:c.90C>T	NP_001308145.1:p.Cys30=
NM_001321217.1:c.90C>T	NP_001308146.1:p.Cys30=
NM_001321218.1:c.90C>T	NP_001308147.1:p.Cys30=
NM_001321219.1:c.90C>T	NP_001308148.1:p.Cys30=
NM_001330149.1:c.90C>T	NP_001317078.1:p.Cys30=
NM_015681.4:c.90C>T	NP_056496.1:p.Cys30=
XM_005256610.2:c.90C>T	XP_005256667.1:p.Cys30=
NM_001321214.2:c.90C>T	NP_001308143.1:p.Cys30=
NM_001321215.2:c.90C>T	NP_001308144.1:p.Cys30=
NM_001321216.2:c.90C>T	NP_001308145.1:p.Cys30=
NM_001321217.2:c.90C>T	NP_001308146.1:p.Cys30=
NM_001321218.2:c.90C>T	NP_001308147.1:p.Cys30=
NM_001321219.2:c.90C>T	NP_001308148.1:p.Cys30=
NM_001368769.2:c.-271C>T	NP_001355698.1:n.-271C>T
NM_015681.5:c.90C>T	NP_056496.1:p.Cys30=
NM_001321215.3:c.90C>T	NP_001308144.1:p.Cys30=
NM_001330149.2:c.90C>T	NP_001317078.1:p.Cys30=
NM_015681.6:c.90C>T MANE Select	NP_056496.1:p.Cys30=