Canonical Allele Identifier: CA14704046
Gene: BBC3 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.47228572C>T
GRCh37 chr19:g.47731829C>T
gnomAD v2:
19:47731829 C / T
gnomAD v3:
19:47228572 C / T
gnomAD v4:
chr19-47228572-C-T
Joint Max Group AF 0.20078841 (AMR)
Genomes Max Group AF 0.2061299 (AMR)
Exomes Max Group AF 0.1848051 (AMR)
dbSNP:
3810294
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.47228572C>T , CM000681.2:g.47228572C>T GRCh38
NC_000019.9:g.47731829C>T , CM000681.1:g.47731829C>T GRCh37
NC_000019.8:g.52423669C>T NCBI36
NG_031991.1:g.9195G>A
NG_031991.2:g.9195G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000439096.3:c.-15-126G>A MANE Select ENSP00000395862.2:n.-15-126G>A
ENST00000300880.11:c.88+3943G>A ENSP00000300880.7:n.88+3943G>A
ENST00000341983.8:c.89-1818G>A ENSP00000341155.4:n.89-1818G>A
ENST00000439096.2:c.-15-126G>A ENSP00000395862.1:n.-15-126G>A
ENST00000449228.5:c.89-126G>A ENSP00000404503.1:n.89-126G>A
NM_001127240.2:c.89-126G>A NP_001120712.1:n.89-126G>A
NM_001127241.2:c.89-1818G>A NP_001120713.1:n.89-1818G>A
NM_001127242.2:c.88+3943G>A NP_001120714.1:n.88+3943G>A
NM_014417.4:c.-15-126G>A NP_055232.1:n.-15-126G>A
XM_006723141.2:c.-15-126G>A XP_006723204.1:n.-15-126G>A
XM_011526722.1:c.34-126G>A XP_011525024.1:n.34-126G>A
XM_011526723.1:c.12-1818G>A XP_011525025.1:n.12-1818G>A
XM_006723141.3:c.-15-126G>A XP_006723204.1:n.-15-126G>A
XM_011526722.2:c.34-126G>A XP_011525024.1:n.34-126G>A
NM_001127240.3:c.89-126G>A NP_001120712.1:n.89-126G>A
NM_001127241.3:c.89-1818G>A NP_001120713.1:n.89-1818G>A
NM_001127242.3:c.88+3943G>A NP_001120714.1:n.88+3943G>A
NM_014417.5:c.-15-126G>A MANE Select NP_055232.1:n.-15-126G>A
Search 100 bp 5'
Search 100 bp 3'