Canonical Allele Identifier: CA117150
Gene: CRTAP HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.33129971C>T
GRCh37 chr3:g.33171463C>T
gnomAD v2:
3:33171463 C / T
gnomAD v3:
3:33129971 C / T
gnomAD v4:
chr3-33129971-C-T
Joint Max Group AF 0.00014362 (AFR)
Genomes Max Group AF 0.0001484 (AFR)
Exomes Max Group AF 0.00007716 (AFR)
ClinVar RCV:
RCV000005238
RCV001269605
ClinVar Variation:
4950
dbSNP:
72659361
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33129971C>T , CM000665.2:g.33129971C>T GRCh38
NC_000003.11:g.33171463C>T , CM000665.1:g.33171463C>T GRCh37
NC_000003.10:g.33146467C>T NCBI36
NG_008122.1:g.21014C>T , LRG_4:g.21014C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320954.11:c.826C>T MANE Select ENSP00000323696.5:p.Gln276Ter
ENST00000320954.10:c.826C>T ENSP00000323696.5:p.Gln276Ter
ENST00000449224.1:c.794-2584C>T ENSP00000409997.1:n.794-2584C>T
ENST00000485310.1:n.420C>T
NM_006371.4:c.826C>T , LRG_4t1:c.826C>T NP_006362.1:p.Gln276Ter
NM_006371.5:c.826C>T MANE Select NP_006362.1:p.Gln276Ter
NM_001393363.1:c.826C>T NP_001380292.1:p.Gln276Ter
NM_001393364.1:c.794-2584C>T NP_001380293.1:n.794-2584C>T
NM_001393365.1:c.676C>T NP_001380294.1:p.Gln226Ter
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