Canonical Allele Identifier: CA2300286
Gene: CRTAP HGNC NCBI

Linked Data

ClinVar Variation Id: 1651184
ClinVar RCV Id: RCV002155706
dbSNP Id: rs770975997
ExAC: 3:33156053 C / T
gnomAD v2: 3-33156053-C-T
gnomAD v3: 3-33114561-C-T
gnomAD v4: 3-33114561-C-T
MyVariant Identifiers: chr3:g.33156053C>T (hg19) chr3:g.33114561C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33114561C>T , CM000665.2:g.33114561C>T GRCh38
NC_000003.11:g.33156053C>T , CM000665.1:g.33156053C>T GRCh37
NC_000003.10:g.33131057C>T NCBI36
NG_008122.1:g.5604C>T , LRG_4:g.5604C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320954.11:c.471+13C>T MANE Select ENSP00000323696.5:n.471+13C>T
ENST00000320954.10:c.471+13C>T ENSP00000323696.5:n.471+13C>T
ENST00000449224.1:c.471+13C>T ENSP00000409997.1:n.471+13C>T
NM_006371.4:c.471+13C>T , LRG_4t1:c.471+13C>T NP_006362.1:n.471+13C>T
NM_006371.5:c.471+13C>T MANE Select NP_006362.1:n.471+13C>T
NM_001393363.1:c.471+13C>T NP_001380292.1:n.471+13C>T
NM_001393364.1:c.471+13C>T NP_001380293.1:n.471+13C>T
NM_001393365.1:c.471+13C>T NP_001380294.1:n.471+13C>T
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