Canonical Allele Identifier: CA371333658
Gene: TTPA HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.63985499C>G (hg19) chr8:g.63072940C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63072940C>G , CM000670.2:g.63072940C>G GRCh38
NC_000008.10:g.63985499C>G , CM000670.1:g.63985499C>G GRCh37
NC_000008.9:g.64148053C>G NCBI36
NG_016123.1:g.18114G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000260116.5:c.353G>C MANE Select ENSP00000260116.4:p.Arg118Thr
ENST00000260116.4:c.353G>C ENSP00000260116.4:p.Arg118Thr
ENST00000521138.1:n.232+12878G>C
NM_000370.3:c.353G>C MANE Select NP_000361.1:p.Arg118Thr
XM_006716468.2:c.205-8624G>C XP_006716531.1:n.205-8624G>C
XM_006716468.4:c.205-8624G>C XP_006716531.1:n.205-8624G>C
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