Canonical Allele Identifier: CA352008535
Gene: CRTAP HGNC NCBI

Linked Data

gnomAD v4: 3-33114360-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33114360G>T , CM000665.2:g.33114360G>T GRCh38
NC_000003.11:g.33155852G>T , CM000665.1:g.33155852G>T GRCh37
NC_000003.10:g.33130856G>T NCBI36
NG_008122.1:g.5403G>T , LRG_4:g.5403G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320954.11:c.283G>T MANE Select ENSP00000323696.5:p.Glu95Ter
ENST00000320954.10:c.283G>T ENSP00000323696.5:p.Glu95Ter
ENST00000449224.1:c.283G>T ENSP00000409997.1:p.Glu95Ter
NM_006371.4:c.283G>T , LRG_4t1:c.283G>T NP_006362.1:p.Glu95Ter
NM_006371.5:c.283G>T MANE Select NP_006362.1:p.Glu95Ter
NM_001393363.1:c.283G>T NP_001380292.1:p.Glu95Ter
NM_001393364.1:c.283G>T NP_001380293.1:p.Glu95Ter
NM_001393365.1:c.283G>T NP_001380294.1:p.Glu95Ter