Canonical Allele Identifier: CA433063808
Gene: CRTAP HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.33155950A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33114458A>C , CM000665.2:g.33114458A>C GRCh38
NC_000003.11:g.33155950A>C , CM000665.1:g.33155950A>C GRCh37
NC_000003.10:g.33130954A>C NCBI36
NG_008122.1:g.5501A>C , LRG_4:g.5501A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000320954.11:c.381A>C MANE Select ENSP00000323696.5:p.Pro127=
ENST00000320954.10:c.381A>C ENSP00000323696.5:p.Pro127=
ENST00000449224.1:c.381A>C ENSP00000409997.1:p.Pro127=
NM_006371.4:c.381A>C , LRG_4t1:c.381A>C NP_006362.1:p.Pro127=
NM_006371.5:c.381A>C MANE Select NP_006362.1:p.Pro127=
NM_001393363.1:c.381A>C NP_001380292.1:p.Pro127=
NM_001393364.1:c.381A>C NP_001380293.1:p.Pro127=
NM_001393365.1:c.381A>C NP_001380294.1:p.Pro127=