Canonical Allele Identifier: CA344919
Gene: TTPA HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.63072935C>T
GRCh37 chr8:g.63985494C>T
Revel Score:
ENST00000260116 (MANE Select) 0.520
gnomAD v2:
8:63985494 C / T
gnomAD v3:
8:63072935 C / T
gnomAD v4:
chr8-63072935-C-T
Joint Max Group AF 0.00011214 (AFR)
Genomes Max Group AF 0.0001128 (AFR)
Exomes Max Group AF 0.00005849 (AFR)
ClinVar RCV:
RCV000055796
RCV000800124
ClinVar Variation:
65591
dbSNP:
143010236
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63072935C>T , CM000670.2:g.63072935C>T GRCh38
NC_000008.10:g.63985494C>T , CM000670.1:g.63985494C>T GRCh37
NC_000008.9:g.64148048C>T NCBI36
NG_016123.1:g.18119G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000260116.5:c.358G>A MANE Select ENSP00000260116.4:p.Ala120Thr
ENST00000260116.4:c.358G>A ENSP00000260116.4:p.Ala120Thr
ENST00000521138.1:n.232+12883G>A
NM_000370.3:c.358G>A MANE Select NP_000361.1:p.Ala120Thr
XM_006716468.2:c.205-8619G>A XP_006716531.1:n.205-8619G>A
XM_006716468.4:c.205-8619G>A XP_006716531.1:n.205-8619G>A
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