Canonical Allele Identifier: CA344919
Gene: TTPA HGNC NCBI

Linked Data

ClinVar Variation Id: 65591
ClinVar RCV Id: RCV000055796 RCV000800124
dbSNP Id: rs143010236
ExAC: 8:63985494 C / T
gnomAD v2: 8-63985494-C-T
gnomAD v3: 8-63072935-C-T
gnomAD v4: 8-63072935-C-T
MyVariant Identifiers: chr8:g.63985494C>T (hg19) chr8:g.63072935C>T (hg38)
PubMed: PMID:20301419
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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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