Canonical Allele Identifier: CA352008538

Gene: CRTAP

Linked Data

• gnomAD v4: 3-33114361-A-G
• MyVariant Identifiers: chr3:g.33155853A>G (hg19) ; chr3:g.33114361A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33114361A>G , CM000665.2:g.33114361A>G	GRCh38
NC_000003.11:g.33155853A>G , CM000665.1:g.33155853A>G	GRCh37
NC_000003.10:g.33130857A>G	NCBI36
NG_008122.1:g.5404A>G , LRG_4:g.5404A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000320954.11:c.284A>G MANE Select	ENSP00000323696.5:p.Glu95Gly
ENST00000320954.10:c.284A>G	ENSP00000323696.5:p.Glu95Gly
ENST00000449224.1:c.284A>G	ENSP00000409997.1:p.Glu95Gly
NM_006371.4:c.284A>G , LRG_4t1:c.284A>G	NP_006362.1:p.Glu95Gly
NM_006371.5:c.284A>G MANE Select	NP_006362.1:p.Glu95Gly
NM_001393363.1:c.284A>G	NP_001380292.1:p.Glu95Gly
NM_001393364.1:c.284A>G	NP_001380293.1:p.Glu95Gly
NM_001393365.1:c.284A>G	NP_001380294.1:p.Glu95Gly