Canonical Allele Identifier: CA352008542

Gene: CRTAP

Linked Data

• gnomAD v4: 3-33114363-C-A
• MyVariant Identifiers: chr3:g.33155855C>A (hg19) ; chr3:g.33114363C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33114363C>A , CM000665.2:g.33114363C>A	GRCh38
NC_000003.11:g.33155855C>A , CM000665.1:g.33155855C>A	GRCh37
NC_000003.10:g.33130859C>A	NCBI36
NG_008122.1:g.5406C>A , LRG_4:g.5406C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000320954.11:c.286C>A MANE Select	ENSP00000323696.5:p.Pro96Thr
ENST00000320954.10:c.286C>A	ENSP00000323696.5:p.Pro96Thr
ENST00000449224.1:c.286C>A	ENSP00000409997.1:p.Pro96Thr
NM_006371.4:c.286C>A , LRG_4t1:c.286C>A	NP_006362.1:p.Pro96Thr
NM_006371.5:c.286C>A MANE Select	NP_006362.1:p.Pro96Thr
NM_001393363.1:c.286C>A	NP_001380292.1:p.Pro96Thr
NM_001393364.1:c.286C>A	NP_001380293.1:p.Pro96Thr
NM_001393365.1:c.286C>A	NP_001380294.1:p.Pro96Thr