Canonical Allele Identifier: CA352008505
Gene: CRTAP HGNC NCBI

Linked Data

ClinVar Variation Id: 1449452
ClinVar RCV Id: RCV001997555
dbSNP Id: rs2125595986
gnomAD v4: 3-33114344-C-G
MyVariant Identifiers: chr3:g.33155836C>G (hg19) chr3:g.33114344C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33114344C>G , CM000665.2:g.33114344C>G GRCh38
NC_000003.11:g.33155836C>G , CM000665.1:g.33155836C>G GRCh37
NC_000003.10:g.33130840C>G NCBI36
NG_008122.1:g.5387C>G , LRG_4:g.5387C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320954.11:c.267C>G MANE Select ENSP00000323696.5:p.Ser89Arg
ENST00000320954.10:c.267C>G ENSP00000323696.5:p.Ser89Arg
ENST00000449224.1:c.267C>G ENSP00000409997.1:p.Ser89Arg
NM_006371.4:c.267C>G , LRG_4t1:c.267C>G NP_006362.1:p.Ser89Arg
NM_006371.5:c.267C>G MANE Select NP_006362.1:p.Ser89Arg
NM_001393363.1:c.267C>G NP_001380292.1:p.Ser89Arg
NM_001393364.1:c.267C>G NP_001380293.1:p.Ser89Arg
NM_001393365.1:c.267C>G NP_001380294.1:p.Ser89Arg
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