Canonical Allele Identifier: CA433063414
Gene: CRTAP HGNC NCBI

Linked Data

ClinVar Variation Id: 748934
ClinVar RCV Id: RCV003505144
dbSNP Id: rs1227411759
gnomAD v2: 3-33155785-G-A
gnomAD v4: 3-33114293-G-A
MyVariant Identifiers: chr3:g.33155785G>A (hg19) chr3:g.33114293G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33114293G>A , CM000665.2:g.33114293G>A GRCh38
NC_000003.11:g.33155785G>A , CM000665.1:g.33155785G>A GRCh37
NC_000003.10:g.33130789G>A NCBI36
NG_008122.1:g.5336G>A , LRG_4:g.5336G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320954.11:c.216G>A MANE Select ENSP00000323696.5:p.Arg72=
ENST00000320954.10:c.216G>A ENSP00000323696.5:p.Arg72=
ENST00000449224.1:c.216G>A ENSP00000409997.1:p.Arg72=
NM_006371.4:c.216G>A , LRG_4t1:c.216G>A NP_006362.1:p.Arg72=
NM_006371.5:c.216G>A MANE Select NP_006362.1:p.Arg72=
NM_001393363.1:c.216G>A NP_001380292.1:p.Arg72=
NM_001393364.1:c.216G>A NP_001380293.1:p.Arg72=
NM_001393365.1:c.216G>A NP_001380294.1:p.Arg72=
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