Canonical Allele Identifier: CA2300479
Gene: CRTAP HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.33132711T>C
GRCh37 chr3:g.33174203T>C
gnomAD v2:
3:33174203 T / C
gnomAD v3:
3:33132711 T / C
gnomAD v4:
chr3-33132711-T-C
Joint Max Group AF 0.00005436 (AMR)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00007282 (AMR)
ClinVar RCV:
RCV000383107
ClinVar Variation:
344814
dbSNP:
761750861
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33132711T>C , CM000665.2:g.33132711T>C GRCh38
NC_000003.11:g.33174203T>C , CM000665.1:g.33174203T>C GRCh37
NC_000003.10:g.33149207T>C NCBI36
NG_008122.1:g.23754T>C , LRG_4:g.23754T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320954.11:c.1068+11T>C MANE Select ENSP00000323696.5:n.1068+11T>C
ENST00000320954.10:c.1068+11T>C ENSP00000323696.5:n.1068+11T>C
ENST00000449224.1:c.939+11T>C ENSP00000409997.1:n.939+11T>C
NM_006371.4:c.1068+11T>C , LRG_4t1:c.1068+11T>C NP_006362.1:n.1068+11T>C
NM_006371.5:c.1068+11T>C MANE Select NP_006362.1:n.1068+11T>C
NM_001393363.1:c.1068+11T>C NP_001380292.1:n.1068+11T>C
NM_001393364.1:c.939+11T>C NP_001380293.1:n.939+11T>C
NM_001393365.1:c.918+11T>C NP_001380294.1:n.918+11T>C
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