Canonical Allele Identifier: CA2300239
Gene: CRTAP HGNC NCBI

Linked Data

ClinVar Variation Id: 344806
ClinVar RCV Id: RCV000391551 RCV002278542 RCV003932395
dbSNP Id: rs540998437
ExAC: 3:33155851 C / T
gnomAD v2: 3-33155851-C-T
gnomAD v3: 3-33114359-C-T
gnomAD v4: 3-33114359-C-T
MyVariant Identifiers: chr3:g.33155851C>T (hg19) chr3:g.33114359C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33114359C>T , CM000665.2:g.33114359C>T GRCh38
NC_000003.11:g.33155851C>T , CM000665.1:g.33155851C>T GRCh37
NC_000003.10:g.33130855C>T NCBI36
NG_008122.1:g.5402C>T , LRG_4:g.5402C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000320954.11:c.282C>T MANE Select ENSP00000323696.5:p.Pro94=
ENST00000320954.10:c.282C>T ENSP00000323696.5:p.Pro94=
ENST00000449224.1:c.282C>T ENSP00000409997.1:p.Pro94=
NM_006371.4:c.282C>T , LRG_4t1:c.282C>T NP_006362.1:p.Pro94=
NM_006371.5:c.282C>T MANE Select NP_006362.1:p.Pro94=
NM_001393363.1:c.282C>T NP_001380292.1:p.Pro94=
NM_001393364.1:c.282C>T NP_001380293.1:p.Pro94=
NM_001393365.1:c.282C>T NP_001380294.1:p.Pro94=
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