Canonical Allele Identifier: CA371333673
Gene: TTPA HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.63985506T>A (hg19) chr8:g.63072947T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63072947T>A , CM000670.2:g.63072947T>A GRCh38
NC_000008.10:g.63985506T>A , CM000670.1:g.63985506T>A GRCh37
NC_000008.9:g.64148060T>A NCBI36
NG_016123.1:g.18107A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000260116.5:c.346A>T MANE Select ENSP00000260116.4:p.Ile116Phe
ENST00000260116.4:c.346A>T ENSP00000260116.4:p.Ile116Phe
ENST00000521138.1:n.232+12871A>T
NM_000370.3:c.346A>T MANE Select NP_000361.1:p.Ile116Phe
XM_006716468.2:c.205-8631A>T XP_006716531.1:n.205-8631A>T
XM_006716468.4:c.205-8631A>T XP_006716531.1:n.205-8631A>T
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