Canonical Allele Identifier: CA204553

Gene: CRTAP

Linked Data

• ClinVar Variation Id: 208570
• ClinVar RCV Id: RCV000190575 ; RCV000255275 ; RCV002277445 ; RCV003927754
• dbSNP Id: rs137853943
• ExAC: 3:33156042 C / A
• gnomAD v2: 3-33156042-C-A
• gnomAD v3: 3-33114550-C-A
• gnomAD v4: 3-33114550-C-A
• MyVariant Identifiers: chr3:g.33156042C>A (hg19) ; chr3:g.33114550C>A (hg38)
• PubMed: PMID:18996919 ; PMID:19550437

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000320954.11:c.471+2C>A MANE Select	ENSP00000323696.5:n.471+2C>A
ENST00000320954.10:c.471+2C>A	ENSP00000323696.5:n.471+2C>A
ENST00000449224.1:c.471+2C>A	ENSP00000409997.1:n.471+2C>A
NM_006371.4:c.471+2C>A , LRG_4t1:c.471+2C>A	NP_006362.1:n.471+2C>A
NM_006371.5:c.471+2C>A MANE Select	NP_006362.1:n.471+2C>A
NM_001393363.1:c.471+2C>A	NP_001380292.1:n.471+2C>A
NM_001393364.1:c.471+2C>A	NP_001380293.1:n.471+2C>A
NM_001393365.1:c.471+2C>A	NP_001380294.1:n.471+2C>A