Canonical Allele Identifier: CA352008432

Gene: CRTAP

Linked Data

• MyVariant Identifiers: chr3:g.33155807A>C (hg19) ; chr3:g.33114315A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33114315A>C , CM000665.2:g.33114315A>C	GRCh38
NC_000003.11:g.33155807A>C , CM000665.1:g.33155807A>C	GRCh37
NC_000003.10:g.33130811A>C	NCBI36
NG_008122.1:g.5358A>C , LRG_4:g.5358A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320954.11:c.238A>C MANE Select	ENSP00000323696.5:p.Ser80Arg
ENST00000320954.10:c.238A>C	ENSP00000323696.5:p.Ser80Arg
ENST00000449224.1:c.238A>C	ENSP00000409997.1:p.Ser80Arg
NM_006371.4:c.238A>C , LRG_4t1:c.238A>C	NP_006362.1:p.Ser80Arg
NM_006371.5:c.238A>C MANE Select	NP_006362.1:p.Ser80Arg
NM_001393363.1:c.238A>C	NP_001380292.1:p.Ser80Arg
NM_001393364.1:c.238A>C	NP_001380293.1:p.Ser80Arg
NM_001393365.1:c.238A>C	NP_001380294.1:p.Ser80Arg