Canonical Allele Identifier: CA352008533
Gene: CRTAP HGNC NCBI

Linked Data

gnomAD v4: 3-33114358-C-A
MyVariant Identifiers: chr3:g.33155850C>A (hg19) chr3:g.33114358C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33114358C>A , CM000665.2:g.33114358C>A GRCh38
NC_000003.11:g.33155850C>A , CM000665.1:g.33155850C>A GRCh37
NC_000003.10:g.33130854C>A NCBI36
NG_008122.1:g.5401C>A , LRG_4:g.5401C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320954.11:c.281C>A MANE Select ENSP00000323696.5:p.Pro94His
ENST00000320954.10:c.281C>A ENSP00000323696.5:p.Pro94His
ENST00000449224.1:c.281C>A ENSP00000409997.1:p.Pro94His
NM_006371.4:c.281C>A , LRG_4t1:c.281C>A NP_006362.1:p.Pro94His
NM_006371.5:c.281C>A MANE Select NP_006362.1:p.Pro94His
NM_001393363.1:c.281C>A NP_001380292.1:p.Pro94His
NM_001393364.1:c.281C>A NP_001380293.1:p.Pro94His
NM_001393365.1:c.281C>A NP_001380294.1:p.Pro94His
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