Canonical Allele Identifier: CA2300276
Community Standard Title: NM_006371.5(CRTAP):c.446A>G (p.Lys149Arg)
Gene: CRTAP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33114523A>G , CM000665.2:g.33114523A>G GRCh38
NC_000003.11:g.33156015A>G , CM000665.1:g.33156015A>G GRCh37
NC_000003.10:g.33131019A>G NCBI36
NG_008122.1:g.5566A>G , LRG_4:g.5566A>G

Transcript Alleles

HGVS Amino-acid Change
NM_006371.5:c.446A>G MANE Select NP_006362.1:p.Lys149Arg
ENST00000320954.11:c.446A>G MANE Select ENSP00000323696.5:p.Lys149Arg
NM_001393363.1:c.446A>G NP_001380292.1:p.Lys149Arg
NM_001393364.1:c.446A>G NP_001380293.1:p.Lys149Arg
NM_001393365.1:c.446A>G NP_001380294.1:p.Lys149Arg
NM_006371.4:c.446A>G , LRG_4t1:c.446A>G NP_006362.1:p.Lys149Arg
ENST00000320954.10:c.446A>G ENSP00000323696.5:p.Lys149Arg
ENST00000449224.1:c.446A>G ENSP00000409997.1:p.Lys149Arg