Canonical Allele Identifier: CA10606514
Gene: CRTAP HGNC NCBI

Linked Data

ClinVar Variation Id: 289670
dbSNP Id: rs886044235
gnomAD v2: 3-33155589-G-C
gnomAD v3: 3-33114097-G-C
gnomAD v4: 3-33114097-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33114097G>C , CM000665.2:g.33114097G>C GRCh38
NC_000003.11:g.33155589G>C , CM000665.1:g.33155589G>C GRCh37
NC_000003.10:g.33130593G>C NCBI36
NG_008122.1:g.5140G>C , LRG_4:g.5140G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000320954.11:c.20G>C MANE Select ENSP00000323696.5:p.Gly7Ala
ENST00000320954.10:c.20G>C ENSP00000323696.5:p.Gly7Ala
ENST00000449224.1:c.20G>C ENSP00000409997.1:p.Gly7Ala
NM_006371.4:c.20G>C , LRG_4t1:c.20G>C NP_006362.1:p.Gly7Ala
NM_006371.5:c.20G>C MANE Select NP_006362.1:p.Gly7Ala
NM_001393363.1:c.20G>C NP_001380292.1:p.Gly7Ala
NM_001393364.1:c.20G>C NP_001380293.1:p.Gly7Ala
NM_001393365.1:c.20G>C NP_001380294.1:p.Gly7Ala