Canonical Allele Identifier: CA2300279
Gene: CRTAP HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.33114533G>C
GRCh37 chr3:g.33156025G>C
Revel Score:
ENST00000320954 (MANE Select) 0.514
ENST00000509775 0.514
ENST00000539684 0.514
ENST00000449224 0.514
ENST00000423366 0.514
gnomAD v2:
3:33156025 G / C
gnomAD v3:
3:33114533 G / C
gnomAD v4:
chr3-33114533-G-C
Joint Max Group AF 0.00005291 (AFR)
Exomes Max Group AF 0.00011888 (AFR)
ClinVar RCV:
RCV000548675
RCV002525305
ClinVar Variation:
465812
dbSNP:
779447329
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33114533G>C , CM000665.2:g.33114533G>C GRCh38
NC_000003.11:g.33156025G>C , CM000665.1:g.33156025G>C GRCh37
NC_000003.10:g.33131029G>C NCBI36
NG_008122.1:g.5576G>C , LRG_4:g.5576G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320954.11:c.456G>C MANE Select ENSP00000323696.5:p.Gln152His
ENST00000320954.10:c.456G>C ENSP00000323696.5:p.Gln152His
ENST00000449224.1:c.456G>C ENSP00000409997.1:p.Gln152His
NM_006371.4:c.456G>C , LRG_4t1:c.456G>C NP_006362.1:p.Gln152His
NM_006371.5:c.456G>C MANE Select NP_006362.1:p.Gln152His
NM_001393363.1:c.456G>C NP_001380292.1:p.Gln152His
NM_001393364.1:c.456G>C NP_001380293.1:p.Gln152His
NM_001393365.1:c.456G>C NP_001380294.1:p.Gln152His
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