Canonical Allele Identifier: CA2300475
Gene: CRTAP HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.33132671C>T
GRCh37 chr3:g.33174163C>T
Revel Score:
ENST00000320954 (MANE Select) 0.354
ENST00000539684 0.354
ENST00000449224 0.354
gnomAD v2:
3:33174163 C / T
gnomAD v3:
3:33132671 C / T
gnomAD v4:
chr3-33132671-C-T
Joint Max Group AF 0.0037888 (AMR)
Genomes Max Group AF 0.00406836 (AMR)
Exomes Max Group AF 0.00361253 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33132671C>T , CM000665.2:g.33132671C>T GRCh38
NC_000003.11:g.33174163C>T , CM000665.1:g.33174163C>T GRCh37
NC_000003.10:g.33149167C>T NCBI36
NG_008122.1:g.23714C>T , LRG_4:g.23714C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320954.11:c.1039C>T MANE Select ENSP00000323696.5:p.Leu347Phe
ENST00000320954.10:c.1039C>T ENSP00000323696.5:p.Leu347Phe
ENST00000449224.1:c.910C>T ENSP00000409997.1:p.Leu304Phe
NM_006371.4:c.1039C>T , LRG_4t1:c.1039C>T NP_006362.1:p.Leu347Phe
NM_006371.5:c.1039C>T MANE Select NP_006362.1:p.Leu347Phe
NM_001393363.1:c.1039C>T NP_001380292.1:p.Leu347Phe
NM_001393364.1:c.910C>T NP_001380293.1:p.Leu304Phe
NM_001393365.1:c.889C>T NP_001380294.1:p.Leu297Phe
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