Canonical Allele Identifier: CA2300162
Gene: CRTAP HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.33114043C>T
GRCh37 chr3:g.33155535C>T
gnomAD v2:
3:33155535 C / T
gnomAD v3:
3:33114043 C / T
gnomAD v4:
chr3-33114043-C-T
Joint Max Group AF 0.00204263 (SAS)
Genomes Max Group AF 0.00175127 (SAS)
Exomes Max Group AF 0.00199611 (SAS)
ClinVar RCV:
RCV000285629
RCV000418227
ClinVar Variation:
344802
dbSNP:
567359532
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33114043C>T , CM000665.2:g.33114043C>T GRCh38
NC_000003.11:g.33155535C>T , CM000665.1:g.33155535C>T GRCh37
NC_000003.10:g.33130539C>T NCBI36
NG_008122.1:g.5086C>T , LRG_4:g.5086C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320954.11:c.-35C>T MANE Select ENSP00000323696.5:n.-35C>T
ENST00000320954.10:c.-35C>T ENSP00000323696.5:n.-35C>T
NM_006371.4:c.-35C>T , LRG_4t1:c.-35C>T NP_006362.1:n.-35C>T
NM_006371.5:c.-35C>T MANE Select NP_006362.1:n.-35C>T
NM_001393363.1:c.-35C>T NP_001380292.1:n.-35C>T
NM_001393364.1:c.-35C>T NP_001380293.1:n.-35C>T
NM_001393365.1:c.-35C>T NP_001380294.1:n.-35C>T
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