Canonical Allele Identifier: CA2300353
Gene: CRTAP HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.33124440C>T
GRCh37 chr3:g.33165932C>T
Revel Score:
ENST00000509775 0.191
ENST00000423366 0.191
gnomAD v2:
3:33165932 C / T
gnomAD v3:
3:33124440 C / T
gnomAD v4:
chr3-33124440-C-T
Joint Max Group AF 0.00032294 (NFE)
Genomes Max Group AF 0.00014673 (NFE)
Exomes Max Group AF 0.0003284 (NFE)
ClinVar RCV:
RCV000526157
RCV000607982
ClinVar Variation:
465813
dbSNP:
144486582
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33124440C>T , CM000665.2:g.33124440C>T GRCh38
NC_000003.11:g.33165932C>T , CM000665.1:g.33165932C>T GRCh37
NC_000003.10:g.33140936C>T NCBI36
NG_008122.1:g.15483C>T , LRG_4:g.15483C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320954.11:c.654C>T MANE Select ENSP00000323696.5:p.Asn218=
ENST00000320954.10:c.654C>T ENSP00000323696.5:p.Asn218=
ENST00000449224.1:c.654C>T ENSP00000409997.1:p.Asn218=
ENST00000485310.1:n.248C>T
NM_006371.4:c.654C>T , LRG_4t1:c.654C>T NP_006362.1:p.Asn218=
NM_006371.5:c.654C>T MANE Select NP_006362.1:p.Asn218=
NM_001393363.1:c.654C>T NP_001380292.1:p.Asn218=
NM_001393364.1:c.654C>T NP_001380293.1:p.Asn218=
NM_001393365.1:c.504C>T NP_001380294.1:p.Asn168=
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