Canonical Allele Identifier: CA202271317
Gene: ASB13 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.5666541C>T
GRCh37 chr10:g.5708504C>T
Revel Score:
ENST00000357700 (MANE Select) 0.036
gnomAD v2:
10:5708504 C / T
gnomAD v3:
10:5666541 C / T
gnomAD v4:
chr10-5666541-C-T
Joint Max Group AF 0.00028693 (AFR)
Genomes Max Group AF 0.00031999 (AFR)
Exomes Max Group AF 0.00011811 (AFR)
ClinVar RCV:
RCV004226444
ClinVar Variation:
2395813
dbSNP:
902756198
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.5666541C>T , CM000672.2:g.5666541C>T GRCh38
NC_000010.10:g.5708504C>T , CM000672.1:g.5708504C>T GRCh37
NC_000010.9:g.5748510C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000357700.11:c.11G>A MANE Select ENSP00000350331.6:p.Arg4Gln
ENST00000357700.10:c.11G>A ENSP00000350331.6:p.Arg4Gln
ENST00000459912.5:c.11G>A ENSP00000433358.1:p.Arg4Gln
ENST00000479033.1:n.55G>A
NM_024701.3:c.11G>A NP_078977.2:p.Arg4Gln
NR_024581.1:n.55G>A
NR_037164.1:n.55G>A
NM_024701.4:c.11G>A MANE Select NP_078977.2:p.Arg4Gln
NR_024581.2:n.55G>A
NR_037164.2:n.55G>A
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