Canonical Allele Identifier: CA433063853
Gene: CRTAP HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.33155959C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33114467C>G , CM000665.2:g.33114467C>G GRCh38
NC_000003.11:g.33155959C>G , CM000665.1:g.33155959C>G GRCh37
NC_000003.10:g.33130963C>G NCBI36
NG_008122.1:g.5510C>G , LRG_4:g.5510C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320954.11:c.390C>G MANE Select ENSP00000323696.5:p.Arg130=
ENST00000320954.10:c.390C>G ENSP00000323696.5:p.Arg130=
ENST00000449224.1:c.390C>G ENSP00000409997.1:p.Arg130=
NM_006371.4:c.390C>G , LRG_4t1:c.390C>G NP_006362.1:p.Arg130=
NM_006371.5:c.390C>G MANE Select NP_006362.1:p.Arg130=
NM_001393363.1:c.390C>G NP_001380292.1:p.Arg130=
NM_001393364.1:c.390C>G NP_001380293.1:p.Arg130=
NM_001393365.1:c.390C>G NP_001380294.1:p.Arg130=