Canonical Allele Identifier: CA72667835

Gene: CRTAP

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33129648C>T , CM000665.2:g.33129648C>T	GRCh38
NC_000003.11:g.33171140C>T , CM000665.1:g.33171140C>T	GRCh37
NC_000003.10:g.33146144C>T	NCBI36
NG_008122.1:g.20691C>T , LRG_4:g.20691C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006371.5:c.794-291C>T MANE Select	NP_006362.1:n.794-291C>T
ENST00000320954.11:c.794-291C>T MANE Select	ENSP00000323696.5:n.794-291C>T
NM_001393363.1:c.794-291C>T	NP_001380292.1:n.794-291C>T
NM_001393364.1:c.794-2907C>T	NP_001380293.1:n.794-2907C>T
NM_001393365.1:c.644-291C>T	NP_001380294.1:n.644-291C>T
NM_006371.4:c.794-291C>T , LRG_4t1:c.794-291C>T	NP_006362.1:n.794-291C>T
ENST00000320954.10:c.794-291C>T	ENSP00000323696.5:n.794-291C>T
ENST00000449224.1:c.794-2907C>T	ENSP00000409997.1:n.794-2907C>T
ENST00000485310.1:n.388-291C>T