Canonical Allele Identifier: CA204553
Gene: CRTAP HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 208570
dbSNP Id: rs137853943

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33114550C>A , CM000665.2:g.33114550C>A GRCh38
NC_000003.10:g.33131046C>A NCBI36
NC_000003.11:g.33156042C>A , CM000665.1:g.33156042C>A GRCh37
NG_008122.1:g.5593C>A , LRG_4:g.5593C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320954.10:c.471+2C>A ENSP00000323696.5:p.=
ENST00000449224.1:c.471+2C>A ENSP00000409997.1:p.=
NM_006371.4:c.471+2C>A , LRG_4t1:c.471+2C>A NP_006362.1:p.=