Canonical Allele Identifier: CA15259648
Community Standard Title: NM_006371.5(CRTAP):c.472-91A>G
Gene: CRTAP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33120253A>G , CM000665.2:g.33120253A>G GRCh38
NC_000003.11:g.33161745A>G , CM000665.1:g.33161745A>G GRCh37
NC_000003.10:g.33136749A>G NCBI36
NG_008122.1:g.11296A>G , LRG_4:g.11296A>G

Transcript Alleles

HGVS Amino-acid Change
NM_006371.5:c.472-91A>G MANE Select NP_006362.1:n.472-91A>G
ENST00000320954.11:c.472-91A>G MANE Select ENSP00000323696.5:n.472-91A>G
NM_001393363.1:c.472-91A>G NP_001380292.1:n.472-91A>G
NM_001393364.1:c.472-91A>G NP_001380293.1:n.472-91A>G
NM_001393365.1:c.472-4155A>G NP_001380294.1:n.472-4155A>G
NM_006371.4:c.472-91A>G , LRG_4t1:c.472-91A>G NP_006362.1:n.472-91A>G
ENST00000320954.10:c.472-91A>G ENSP00000323696.5:n.472-91A>G
ENST00000449224.1:c.472-91A>G ENSP00000409997.1:n.472-91A>G
ENST00000485310.1:n.66-91A>G