Canonical Allele Identifier: CA72706360

Gene: CRTAP

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33124128T>C , CM000665.2:g.33124128T>C	GRCh38
NC_000003.11:g.33165620T>C , CM000665.1:g.33165620T>C	GRCh37
NC_000003.10:g.33140624T>C	NCBI36
NG_008122.1:g.15171T>C , LRG_4:g.15171T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006371.5:c.622-280T>C MANE Select	NP_006362.1:n.622-280T>C
ENST00000320954.11:c.622-280T>C MANE Select	ENSP00000323696.5:n.622-280T>C
NM_001393363.1:c.622-280T>C	NP_001380292.1:n.622-280T>C
NM_001393364.1:c.622-280T>C	NP_001380293.1:n.622-280T>C
NM_001393365.1:c.472-280T>C	NP_001380294.1:n.472-280T>C
NM_006371.4:c.622-280T>C , LRG_4t1:c.622-280T>C	NP_006362.1:n.622-280T>C
ENST00000320954.10:c.622-280T>C	ENSP00000323696.5:n.622-280T>C
ENST00000449224.1:c.622-280T>C	ENSP00000409997.1:n.622-280T>C
ENST00000485310.1:n.216-280T>C