Canonical Allele Identifier: CA117153
Gene: CRTAP HGNC NCBI

Linked Data

ClinVar Variation Id: 4951
ClinVar RCV Id: RCV000005239 RCV002468961
dbSNP Id: rs72659357
gnomAD v4: 3-33114080-G-A
MyVariant Identifiers: chr3:g.33155572G>A (hg19) chr3:g.33114080G>A (hg38)
PubMed: PMID:17192541
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33114080G>A , CM000665.2:g.33114080G>A GRCh38
NC_000003.11:g.33155572G>A , CM000665.1:g.33155572G>A GRCh37
NC_000003.10:g.33130576G>A NCBI36
NG_008122.1:g.5123G>A , LRG_4:g.5123G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320954.11:c.3G>A MANE Select ENSP00000323696.5:p.Met1Ile
ENST00000320954.10:c.3G>A ENSP00000323696.5:p.Met1Ile
ENST00000449224.1:c.3G>A ENSP00000409997.1:p.Met1Ile
NM_006371.4:c.3G>A , LRG_4t1:c.3G>A NP_006362.1:p.Met1Ile
NM_006371.5:c.3G>A MANE Select NP_006362.1:p.Met1Ile
NM_001393363.1:c.3G>A NP_001380292.1:p.Met1Ile
NM_001393364.1:c.3G>A NP_001380293.1:p.Met1Ile
NM_001393365.1:c.3G>A NP_001380294.1:p.Met1Ile
Search 100 bp 5'
Search 100 bp 3'