Canonical Allele Identifier: CA72699932
Gene: CRTAP HGNC NCBI

Linked Data

ClinVar Variation Id: 1570295
ClinVar RCV Id: RCV002215266
dbSNP Id: rs759716355
gnomAD v2: 3-33156058-C-G
gnomAD v3: 3-33114566-C-G
gnomAD v4: 3-33114566-C-G
MyVariant Identifiers: chr3:g.33156058C>G (hg19) chr3:g.33114566C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33114566C>G , CM000665.2:g.33114566C>G GRCh38
NC_000003.11:g.33156058C>G , CM000665.1:g.33156058C>G GRCh37
NC_000003.10:g.33131062C>G NCBI36
NG_008122.1:g.5609C>G , LRG_4:g.5609C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320954.11:c.471+18C>G MANE Select ENSP00000323696.5:n.471+18C>G
ENST00000320954.10:c.471+18C>G ENSP00000323696.5:n.471+18C>G
ENST00000449224.1:c.471+18C>G ENSP00000409997.1:n.471+18C>G
NM_006371.4:c.471+18C>G , LRG_4t1:c.471+18C>G NP_006362.1:n.471+18C>G
NM_006371.5:c.471+18C>G MANE Select NP_006362.1:n.471+18C>G
NM_001393363.1:c.471+18C>G NP_001380292.1:n.471+18C>G
NM_001393364.1:c.471+18C>G NP_001380293.1:n.471+18C>G
NM_001393365.1:c.471+18C>G NP_001380294.1:n.471+18C>G
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