Canonical Allele Identifier: CA38736636
Gene: IBA57 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.228166132A>G
GRCh37 chr1:g.228353833A>G
Revel Score:
ENST00000366711 (MANE Select) 0.406
gnomAD v2:
1:228353833 A / G
gnomAD v3:
1:228166132 A / G
gnomAD v4:
chr1-228166132-A-G
Joint Max Group AF 0.00001927 (AFR)
Genomes Max Group AF 0.00001921 (AFR)
Exomes Max Group AF 0.00000474 (NFE)
ClinVar RCV:
RCV000656684
RCV001309858
ClinVar Variation:
545650
dbSNP:
1053773776
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000366711.4:c.316A>G MANE Select ENSP00000355672.3:p.Thr106Ala
ENST00000366711.3:c.316A>G ENSP00000355672.3:p.Thr106Ala
NM_001010867.2:c.316A>G NP_001010867.1:p.Thr106Ala
NM_001010867.3:c.316A>G NP_001010867.1:p.Thr106Ala
XM_006711753.2:c.316A>G XP_006711816.1:p.Thr106Ala
NM_001010867.4:c.316A>G MANE Select NP_001010867.1:p.Thr106Ala
Search 100 bp 5'
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