Canonical Allele Identifier: CA72699803
Gene: CRTAP HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.33114521C>G
GRCh37 chr3:g.33156013C>G
gnomAD v2:
3:33156013 C / G
gnomAD v4:
chr3-33114521-C-G
Joint Max Group AF 0.0000036 (NFE)
Exomes Max Group AF 0.00000382 (NFE)
ClinVar RCV:
RCV000534680
ClinVar Variation:
465810
dbSNP:
972668240
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33114521C>G , CM000665.2:g.33114521C>G GRCh38
NC_000003.11:g.33156013C>G , CM000665.1:g.33156013C>G GRCh37
NC_000003.10:g.33131017C>G NCBI36
NG_008122.1:g.5564C>G , LRG_4:g.5564C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320954.11:c.444C>G MANE Select ENSP00000323696.5:p.Tyr148Ter
ENST00000320954.10:c.444C>G ENSP00000323696.5:p.Tyr148Ter
ENST00000449224.1:c.444C>G ENSP00000409997.1:p.Tyr148Ter
NM_006371.4:c.444C>G , LRG_4t1:c.444C>G NP_006362.1:p.Tyr148Ter
NM_006371.5:c.444C>G MANE Select NP_006362.1:p.Tyr148Ter
NM_001393363.1:c.444C>G NP_001380292.1:p.Tyr148Ter
NM_001393364.1:c.444C>G NP_001380293.1:p.Tyr148Ter
NM_001393365.1:c.444C>G NP_001380294.1:p.Tyr148Ter
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