Canonical Allele Identifier: CA352008744

Gene: CRTAP

Linked Data

• MyVariant Identifiers: chr3:g.33155955T>G (hg19) ; chr3:g.33114463T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33114463T>G , CM000665.2:g.33114463T>G	GRCh38
NC_000003.11:g.33155955T>G , CM000665.1:g.33155955T>G	GRCh37
NC_000003.10:g.33130959T>G	NCBI36
NG_008122.1:g.5506T>G , LRG_4:g.5506T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000320954.11:c.386T>G MANE Select	ENSP00000323696.5:p.Phe129Cys
ENST00000320954.10:c.386T>G	ENSP00000323696.5:p.Phe129Cys
ENST00000449224.1:c.386T>G	ENSP00000409997.1:p.Phe129Cys
NM_006371.4:c.386T>G , LRG_4t1:c.386T>G	NP_006362.1:p.Phe129Cys
NM_006371.5:c.386T>G MANE Select	NP_006362.1:p.Phe129Cys
NM_001393363.1:c.386T>G	NP_001380292.1:p.Phe129Cys
NM_001393364.1:c.386T>G	NP_001380293.1:p.Phe129Cys
NM_001393365.1:c.386T>G	NP_001380294.1:p.Phe129Cys