Canonical Allele Identifier: CA120138
Gene: TTPA HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.63064294C>T
GRCh37 chr8:g.63976853C>T
Revel Score:
ENST00000260116 (MANE Select) 0.671
gnomAD v2:
8:63976853 C / T
gnomAD v3:
8:63064294 C / T
gnomAD v4:
chr8-63064294-C-T
Joint Max Group AF 0.00008099 (NFE)
Genomes Max Group AF 0.00010183 (NFE)
Exomes Max Group AF 0.00007604 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63064294C>T , CM000670.2:g.63064294C>T GRCh38
NC_000008.10:g.63976853C>T , CM000670.1:g.63976853C>T GRCh37
NC_000008.9:g.64139407C>T NCBI36
NG_016123.1:g.26760G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000260116.5:c.575G>A MANE Select ENSP00000260116.4:p.Arg192His
ENST00000260116.4:c.575G>A ENSP00000260116.4:p.Arg192His
ENST00000521138.1:n.233-15691G>A
NM_000370.3:c.575G>A MANE Select NP_000361.1:p.Arg192His
XM_006716468.2:c.227G>A XP_006716531.1:p.Arg76His
XM_006716468.4:c.227G>A XP_006716531.1:p.Arg76His
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