Canonical Allele Identifier: CA8440430

Gene: B9D1

Linked Data

• ClinVar Variation Id: 322202
• ClinVar RCV Id: RCV000345475 ; RCV000614635
• dbSNP Id: rs117169107
• ExAC: 17:19265992 C / T
• gnomAD v2: 17-19265992-C-T
• gnomAD v3: 17-19362679-C-T
• gnomAD v4: 17-19362679-C-T
• MyVariant Identifiers: chr17:g.19265992C>T (hg19) ; chr17:g.19362679C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19362679C>T , CM000679.2:g.19362679C>T	GRCh38
NC_000017.10:g.19265992C>T , CM000679.1:g.19265992C>T	GRCh37
NC_000017.9:g.19206585C>T	NCBI36
NG_031885.1:g.20504G>A
NG_031885.2:g.20515G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261499.11:c.-110G>A MANE Select	ENSP00000261499.4:n.-110G>A
ENST00000261499.10:c.-110G>A	ENSP00000261499.4:n.-110G>A
ENST00000477478.7:c.-297-2291G>A	ENSP00000460939.2:n.-297-2291G>A
ENST00000574508.7:c.-298+187G>A	ENSP00000462565.2:n.-298+187G>A
ENST00000575478.7:c.-377G>A	ENSP00000458525.3:n.-377G>A
ENST00000582857.2:c.-297-2291G>A	ENSP00000463165.2:n.-297-2291G>A
ENST00000642870.2:c.-297-2291G>A	ENSP00000496409.2:n.-297-2291G>A
ENST00000647252.1:c.-110G>A	ENSP00000495045.1:n.-110G>A
ENST00000674596.1:c.-43-4728G>A	ENSP00000501877.1:n.-43-4728G>A
ENST00000675510.1:c.-110G>A	ENSP00000501817.1:n.-110G>A
ENST00000261499.8:c.-110G>A	ENSP00000261499.4:n.-110G>A
ENST00000395616.7:c.-110G>A	ENSP00000378978.3:n.-110G>A
ENST00000477478.6:c.-10-2291G>A	ENSP00000460939.1:n.-10-2291G>A
ENST00000477683.5:n.35G>A
ENST00000487415.6:c.-10-2291G>A	ENSP00000463255.1:n.-10-2291G>A
ENST00000574508.6:c.-11+187G>A	ENSP00000462565.1:n.-11+187G>A
ENST00000575403.5:c.-10-2291G>A	ENSP00000459857.1:n.-10-2291G>A
ENST00000575478.5:c.-90G>A	ENSP00000458525.1:n.-90G>A
NM_001243473.1:c.43G>A	NP_001230402.1:p.Ala15Thr
NM_001243475.1:c.-10-2291G>A	NP_001230404.1:n.-10-2291G>A
NM_015681.3:c.-110G>A	NP_056496.1:n.-110G>A
XM_005256605.2:c.-110G>A	XP_005256662.1:n.-110G>A
XM_005256607.2:c.-110G>A	XP_005256664.1:n.-110G>A
XM_005256608.2:c.-110G>A	XP_005256665.1:n.-110G>A
XM_005256609.1:c.-110G>A	XP_005256666.1:n.-110G>A
XM_005256610.1:c.-110G>A	XP_005256667.1:n.-110G>A
XM_011523793.1:c.-110G>A	XP_011522095.1:n.-110G>A
XM_011523794.1:c.-110G>A	XP_011522096.1:n.-110G>A
NM_001243473.2:c.43G>A	NP_001230402.1:p.Ala15Thr
NM_001243475.2:c.-10-2291G>A	NP_001230404.1:n.-10-2291G>A
NM_001321214.1:c.-110G>A	NP_001308143.1:n.-110G>A
NM_001321215.1:c.-110G>A	NP_001308144.1:n.-110G>A
NM_001321216.1:c.-110G>A	NP_001308145.1:n.-110G>A
NM_001321217.1:c.-110G>A	NP_001308146.1:n.-110G>A
NM_001321218.1:c.-110G>A	NP_001308147.1:n.-110G>A
NM_001321219.1:c.-110G>A	NP_001308148.1:n.-110G>A
NM_001330149.1:c.-110G>A	NP_001317078.1:n.-110G>A
NM_015681.4:c.-110G>A	NP_056496.1:n.-110G>A
NM_001321214.2:c.-110G>A	NP_001308143.1:n.-110G>A
NM_001321215.2:c.-110G>A	NP_001308144.1:n.-110G>A
NM_001321216.2:c.-110G>A	NP_001308145.1:n.-110G>A
NM_001321217.2:c.-110G>A	NP_001308146.1:n.-110G>A
NM_001321218.2:c.-110G>A	NP_001308147.1:n.-110G>A
NM_001321219.2:c.-110G>A	NP_001308148.1:n.-110G>A
NM_001368769.2:c.-297-2291G>A	NP_001355698.1:n.-297-2291G>A
NM_015681.5:c.-110G>A	NP_056496.1:n.-110G>A
NM_001321215.3:c.-110G>A	NP_001308144.1:n.-110G>A
NM_001330149.2:c.-110G>A	NP_001317078.1:n.-110G>A
NM_015681.6:c.-110G>A MANE Select	NP_056496.1:n.-110G>A