Canonical Allele Identifier: CA129674

Gene: B9D1

Linked Data

• ClinVar Variation Id: 31102
• ClinVar RCV Id: RCV000024098 ; RCV000049798 ; RCV000818541 ; RCV001270058
• dbSNP Id: rs143149764
• ExAC: 17:19251095 A / G
• gnomAD v2: 17-19251095-A-G
• gnomAD v3: 17-19347782-A-G
• gnomAD v4: 17-19347782-A-G
• MyVariant Identifiers: chr17:g.19251095A>G (hg19) ; chr17:g.19347782A>G (hg38)
• PubMed: PMID:21493627

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19347782A>G , CM000679.2:g.19347782A>G	GRCh38
NC_000017.10:g.19251095A>G , CM000679.1:g.19251095A>G	GRCh37
NC_000017.9:g.19191688A>G	NCBI36
NG_031885.1:g.35401T>C
NG_031885.2:g.35412T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261499.11:c.341+2T>C MANE Select	ENSP00000261499.4:n.341+2T>C
ENST00000261499.10:c.341+2T>C	ENSP00000261499.4:n.341+2T>C
ENST00000477478.7:c.-20+2T>C	ENSP00000460939.2:n.-20+2T>C
ENST00000574508.7:c.-20+2T>C	ENSP00000462565.2:n.-20+2T>C
ENST00000575478.7:c.-20+2T>C	ENSP00000458525.3:n.-20+2T>C
ENST00000582857.2:c.-20+2T>C	ENSP00000463165.2:n.-20+2T>C
ENST00000642870.2:c.-20+2T>C	ENSP00000496409.2:n.-20+2T>C
ENST00000646248.1:c.134+2T>C	ENSP00000493599.1:n.134+2T>C
ENST00000647056.1:c.333+2T>C	ENSP00000496502.1:n.333+2T>C
ENST00000647252.1:c.341+2T>C	ENSP00000495045.1:n.341+2T>C
ENST00000663089.1:c.404+2T>C	ENSP00000499469.1:n.404+2T>C
ENST00000671102.1:c.404+2T>C	ENSP00000499690.1:n.404+2T>C
ENST00000674596.1:c.166+2T>C	ENSP00000501877.1:n.166+2T>C
ENST00000675510.1:c.341+2T>C	ENSP00000501817.1:n.341+2T>C
ENST00000261499.8:c.341+2T>C	ENSP00000261499.4:n.341+2T>C
ENST00000268841.10:c.341+2T>C	ENSP00000268841.6:n.341+2T>C
ENST00000395615.5:c.341+2T>C	ENSP00000378977.1:n.341+2T>C
ENST00000395616.7:c.341+2T>C	ENSP00000378978.3:n.341+2T>C
ENST00000440841.1:c.314+2T>C	ENSP00000410835.1:n.314+2T>C
ENST00000461069.6:c.341+2T>C	ENSP00000433359.2:n.341+2T>C
ENST00000477478.6:c.268+2T>C	ENSP00000460939.1:n.268+2T>C
ENST00000477683.5:n.485+2T>C
ENST00000574508.6:c.268+2T>C	ENSP00000462565.1:n.268+2T>C
ENST00000575403.5:c.268+2T>C	ENSP00000459857.1:n.268+2T>C
ENST00000575478.5:c.268+2T>C	ENSP00000458525.1:n.268+2T>C
ENST00000582857.1:c.454+2T>C	ENSP00000463165.1:n.454+2T>C
NM_001243473.1:c.400+2T>C	NP_001230402.1:n.400+2T>C
NM_001243475.1:c.268+2T>C	NP_001230404.1:n.268+2T>C
NM_015681.3:c.341+2T>C	NP_056496.1:n.341+2T>C
XM_005256605.2:c.341+2T>C	XP_005256662.1:n.341+2T>C
XM_005256607.2:c.341+2T>C	XP_005256664.1:n.341+2T>C
XM_005256608.2:c.341+2T>C	XP_005256665.1:n.341+2T>C
XM_005256609.1:c.341+2T>C	XP_005256666.1:n.341+2T>C
XM_005256610.1:c.341+2T>C	XP_005256667.1:n.341+2T>C
XM_011523793.1:c.341+2T>C	XP_011522095.1:n.341+2T>C
XM_011523794.1:c.341+2T>C	XP_011522096.1:n.341+2T>C
NM_001243473.2:c.400+2T>C	NP_001230402.1:n.400+2T>C
NM_001243475.2:c.268+2T>C	NP_001230404.1:n.268+2T>C
NM_001321214.1:c.341+2T>C	NP_001308143.1:n.341+2T>C
NM_001321215.1:c.341+2T>C	NP_001308144.1:n.341+2T>C
NM_001321216.1:c.341+2T>C	NP_001308145.1:n.341+2T>C
NM_001321217.1:c.341+2T>C	NP_001308146.1:n.341+2T>C
NM_001321218.1:c.341+2T>C	NP_001308147.1:n.341+2T>C
NM_001321219.1:c.341+2T>C	NP_001308148.1:n.341+2T>C
NM_001330149.1:c.341+2T>C	NP_001317078.1:n.341+2T>C
NM_015681.4:c.341+2T>C	NP_056496.1:n.341+2T>C
XM_005256610.2:c.341+2T>C	XP_005256667.1:n.341+2T>C
NM_001321214.2:c.341+2T>C	NP_001308143.1:n.341+2T>C
NM_001321215.2:c.341+2T>C	NP_001308144.1:n.341+2T>C
NM_001321216.2:c.341+2T>C	NP_001308145.1:n.341+2T>C
NM_001321217.2:c.341+2T>C	NP_001308146.1:n.341+2T>C
NM_001321218.2:c.341+2T>C	NP_001308147.1:n.341+2T>C
NM_001321219.2:c.341+2T>C	NP_001308148.1:n.341+2T>C
NM_001368769.2:c.-20+2T>C	NP_001355698.1:n.-20+2T>C
NM_015681.5:c.341+2T>C	NP_056496.1:n.341+2T>C
NM_001321215.3:c.341+2T>C	NP_001308144.1:n.341+2T>C
NM_001330149.2:c.341+2T>C	NP_001317078.1:n.341+2T>C
NM_015681.6:c.341+2T>C MANE Select	NP_056496.1:n.341+2T>C