Canonical Allele Identifier: CA371331607
Gene: TTPA HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.63973815T>A (hg19) chr8:g.63061256T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63061256T>A , CM000670.2:g.63061256T>A GRCh38
NC_000008.10:g.63973815T>A , CM000670.1:g.63973815T>A GRCh37
NC_000008.9:g.64136369T>A NCBI36
NG_016123.1:g.29798A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000260116.5:c.833A>T MANE Select ENSP00000260116.4:p.Gln278Leu
ENST00000260116.4:c.833A>T ENSP00000260116.4:p.Gln278Leu
ENST00000521138.1:n.233-12653A>T
NM_000370.3:c.833A>T MANE Select NP_000361.1:p.Gln278Leu
XM_006716468.2:c.485A>T XP_006716531.1:p.Gln162Leu
XM_006716468.4:c.485A>T XP_006716531.1:p.Gln162Leu
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