Canonical Allele Identifier: CA345106732
Gene: IBA57 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.228166132A>T
GRCh37 chr1:g.228353833A>T
Revel Score:
ENST00000366711 (MANE Select) 0.344
gnomAD v2:
1:228353833 A / T
gnomAD v3:
1:228166132 A / T
gnomAD v4:
chr1-228166132-A-T
Joint Max Group AF 0.00000853 (EAS)
Exomes Max Group AF 0.00000983 (EAS)
ClinVar RCV:
RCV002971336
ClinVar Variation:
2070682
dbSNP:
1053773776
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.228166132A>T , CM000663.2:g.228166132A>T GRCh38
NC_000001.10:g.228353833A>T , CM000663.1:g.228353833A>T GRCh37
NC_000001.9:g.226420456A>T NCBI36
NG_042231.1:g.5325A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366711.4:c.316A>T MANE Select ENSP00000355672.3:p.Thr106Ser
ENST00000366711.3:c.316A>T ENSP00000355672.3:p.Thr106Ser
NM_001010867.2:c.316A>T NP_001010867.1:p.Thr106Ser
NM_001010867.3:c.316A>T NP_001010867.1:p.Thr106Ser
XM_006711753.2:c.316A>T XP_006711816.1:p.Thr106Ser
NM_001010867.4:c.316A>T MANE Select NP_001010867.1:p.Thr106Ser
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