Canonical Allele Identifier: CA352008544
Gene: CRTAP HGNC NCBI

Linked Data

gnomAD v4: 3-33114363-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33114363C>T , CM000665.2:g.33114363C>T GRCh38
NC_000003.11:g.33155855C>T , CM000665.1:g.33155855C>T GRCh37
NC_000003.10:g.33130859C>T NCBI36
NG_008122.1:g.5406C>T , LRG_4:g.5406C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320954.11:c.286C>T MANE Select ENSP00000323696.5:p.Pro96Ser
ENST00000320954.10:c.286C>T ENSP00000323696.5:p.Pro96Ser
ENST00000449224.1:c.286C>T ENSP00000409997.1:p.Pro96Ser
NM_006371.4:c.286C>T , LRG_4t1:c.286C>T NP_006362.1:p.Pro96Ser
NM_006371.5:c.286C>T MANE Select NP_006362.1:p.Pro96Ser
NM_001393363.1:c.286C>T NP_001380292.1:p.Pro96Ser
NM_001393364.1:c.286C>T NP_001380293.1:p.Pro96Ser
NM_001393365.1:c.286C>T NP_001380294.1:p.Pro96Ser